Name: rs3743481
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs3743481

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:77614803 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: G>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.437074 (115689/264690, TOPMED)
A=0.434521 (104385/240230, GnomAD_exome)
A=0.394239 (73968/187622, ALFA) (+ 23 more)
A=0.436450 (61131/140064, GnomAD)
A=0.457631 (48475/105926, ExAC)
G=0.46804 (13225/28256, 14KJPN)
G=0.46587 (7807/16758, 8.3KJPN)
A=0.42034 (5319/12654, GO-ESP)
G=0.4852 (3107/6404, 1000G_30x)
G=0.4800 (2404/5008, 1000G)
A=0.3911 (1752/4480, Estonian)
A=0.3812 (1469/3854, ALSPAC)
A=0.3716 (1378/3708, TWINSUK)
G=0.4666 (1367/2930, KOREAN)
G=0.4426 (787/1778, HapMap)
A=0.368 (367/998, GoNL)
G=0.373 (293/786, PRJEB37584)
A=0.447 (280/626, Chileans)
A=0.367 (220/600, NorthernSweden)
A=0.352 (188/534, MGP)
G=0.341 (140/410, SGDP_PRJ)
A=0.474 (143/302, FINRISK)
G=0.421 (91/216, Qatari)
A=0.38 (34/90, Ancient Sardinia)
A=0.33 (13/40, GENOME_DK)
G=0.31 (11/36, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: LINGO1 : Synonymous Variant
LOC105370906 : Intron Variant
Publications: 3 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	203906	G=0.602998	A=0.397002
European	Sub	163074	G=0.615628	A=0.384372
African	Sub	15440	G=0.46904	A=0.53096
African Others	Sub	530	G=0.430	A=0.570
African American	Sub	14910	G=0.47042	A=0.52958
Asian	Sub	734	G=0.426	A=0.574
East Asian	Sub	540	G=0.400	A=0.600
Other Asian	Sub	194	G=0.500	A=0.500
Latin American 1	Sub	1250	G=0.5592	A=0.4408
Latin American 2	Sub	8474	G=0.6376	A=0.3624
South Asian	Sub	196	G=0.423	A=0.577
Other	Sub	14738	G=0.59859	A=0.40141

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.562926	A=0.437074
gnomAD - Exomes	Global	Study-wide	240230	G=0.565479	A=0.434521
gnomAD - Exomes	European	Sub	129436	G=0.606446	A=0.393554
gnomAD - Exomes	Asian	Sub	47042	G=0.41907	A=0.58093
gnomAD - Exomes	American	Sub	33468	G=0.65576	A=0.34424
gnomAD - Exomes	African	Sub	14484	G=0.46803	A=0.53197
gnomAD - Exomes	Ashkenazi Jewish	Sub	9898	G=0.5555	A=0.4445
gnomAD - Exomes	Other	Sub	5902	G=0.5779	A=0.4221
Allele Frequency Aggregator	Total	Global	187622	G=0.605761	A=0.394239
Allele Frequency Aggregator	European	Sub	153044	G=0.615019	A=0.384981
Allele Frequency Aggregator	Other	Sub	13318	G=0.59911	A=0.40089
Allele Frequency Aggregator	African	Sub	10606	G=0.47633	A=0.52367
Allele Frequency Aggregator	Latin American 2	Sub	8474	G=0.6376	A=0.3624
Allele Frequency Aggregator	Latin American 1	Sub	1250	G=0.5592	A=0.4408
Allele Frequency Aggregator	Asian	Sub	734	G=0.426	A=0.574
Allele Frequency Aggregator	South Asian	Sub	196	G=0.423	A=0.577
gnomAD - Genomes	Global	Study-wide	140064	G=0.563550	A=0.436450
gnomAD - Genomes	European	Sub	75868	G=0.61140	A=0.38860
gnomAD - Genomes	African	Sub	41960	G=0.47986	A=0.52014
gnomAD - Genomes	American	Sub	13642	G=0.58877	A=0.41123
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	G=0.5515	A=0.4485
gnomAD - Genomes	East Asian	Sub	3126	G=0.4232	A=0.5768
gnomAD - Genomes	Other	Sub	2150	G=0.5707	A=0.4293
ExAC	Global	Study-wide	105926	G=0.542369	A=0.457631
ExAC	Europe	Sub	64356	G=0.58806	A=0.41194
ExAC	Asian	Sub	22870	G=0.40612	A=0.59388
ExAC	American	Sub	9532	G=0.6414	A=0.3586
ExAC	African	Sub	8392	G=0.4517	A=0.5483
ExAC	Other	Sub	776	G=0.532	A=0.468
14KJPN	JAPANESE	Study-wide	28256	G=0.46804	A=0.53196
8.3KJPN	JAPANESE	Study-wide	16758	G=0.46587	A=0.53413
GO Exome Sequencing Project	Global	Study-wide	12654	G=0.57966	A=0.42034
GO Exome Sequencing Project	European American	Sub	8428	G=0.6254	A=0.3746
GO Exome Sequencing Project	African American	Sub	4226	G=0.4884	A=0.5116
1000Genomes_30x	Global	Study-wide	6404	G=0.4852	A=0.5148
1000Genomes_30x	African	Sub	1786	G=0.4367	A=0.5633
1000Genomes_30x	Europe	Sub	1266	G=0.5987	A=0.4013
1000Genomes_30x	South Asian	Sub	1202	G=0.4285	A=0.5715
1000Genomes_30x	East Asian	Sub	1170	G=0.4085	A=0.5915
1000Genomes_30x	American	Sub	980	G=0.588	A=0.412
1000Genomes	Global	Study-wide	5008	G=0.4800	A=0.5200
1000Genomes	African	Sub	1322	G=0.4334	A=0.5666
1000Genomes	East Asian	Sub	1008	G=0.4048	A=0.5952
1000Genomes	Europe	Sub	1006	G=0.5944	A=0.4056
1000Genomes	South Asian	Sub	978	G=0.429	A=0.571
1000Genomes	American	Sub	694	G=0.584	A=0.416
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.6089	A=0.3911
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.6188	A=0.3812
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.6284	A=0.3716
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.4666	A=0.5334
HapMap	Global	Study-wide	1778	G=0.4426	A=0.5574
HapMap	African	Sub	688	G=0.356	A=0.644
HapMap	American	Sub	666	G=0.491	A=0.509
HapMap	Asian	Sub	252	G=0.460	A=0.540
HapMap	Europe	Sub	172	G=0.576	A=0.424
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.632	A=0.368
CNV burdens in cranial meningiomas	Global	Study-wide	786	G=0.373	A=0.627
CNV burdens in cranial meningiomas	CRM	Sub	786	G=0.373	A=0.627
Chileans	Chilean	Study-wide	626	G=0.553	A=0.447
Northern Sweden	ACPOP	Study-wide	600	G=0.633	A=0.367
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.648	A=0.352
SGDP_PRJ	Global	Study-wide	410	G=0.341	A=0.659
FINRISK	Finnish from FINRISK project	Study-wide	302	G=0.526	A=0.474
Qatari	Global	Study-wide	216	G=0.421	A=0.579
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	90	G=0.62	A=0.38
The Danish reference pan genome	Danish	Study-wide	40	G=0.68	A=0.33
Siberian	Global	Study-wide	36	G=0.31	A=0.69

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 15	NC_000015.10:g.77614803G>A
GRCh37.p13 chr 15	NC_000015.9:g.77907145G>A

Gene: LINGO1, leucine rich repeat and Ig domain containing 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LINGO1 transcript variant 1	NM_032808.7:c.1104C>T	S [TCC] > S [TCT]	Coding Sequence Variant
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform a precursor	NP_116197.4:p.Ser368=	S (Ser) > S (Ser)	Synonymous Variant
LINGO1 transcript variant 7	NM_001301194.2:c.1086C>T	S [TCC] > S [TCT]	Coding Sequence Variant
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288123.1:p.Ser362=	S (Ser) > S (Ser)	Synonymous Variant
LINGO1 transcript variant 6	NM_001301192.2:c.1086C>T	S [TCC] > S [TCT]	Coding Sequence Variant
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288121.1:p.Ser362=	S (Ser) > S (Ser)	Synonymous Variant
LINGO1 transcript variant 12	NM_001301200.2:c.1086C>T	S [TCC] > S [TCT]	Coding Sequence Variant
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288129.1:p.Ser362=	S (Ser) > S (Ser)	Synonymous Variant
LINGO1 transcript variant 4	NM_001301189.2:c.1086C>T	S [TCC] > S [TCT]	Coding Sequence Variant
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288118.1:p.Ser362=	S (Ser) > S (Ser)	Synonymous Variant
LINGO1 transcript variant 8	NM_001301195.2:c.1086C>T	S [TCC] > S [TCT]	Coding Sequence Variant
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288124.1:p.Ser362=	S (Ser) > S (Ser)	Synonymous Variant
LINGO1 transcript variant 5	NM_001301191.2:c.1086C>T	S [TCC] > S [TCT]	Coding Sequence Variant
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288120.1:p.Ser362=	S (Ser) > S (Ser)	Synonymous Variant
LINGO1 transcript variant 11	NM_001301199.2:c.1086C>T	S [TCC] > S [TCT]	Coding Sequence Variant
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288128.1:p.Ser362=	S (Ser) > S (Ser)	Synonymous Variant
LINGO1 transcript variant 3	NM_001301187.2:c.1086C>T	S [TCC] > S [TCT]	Coding Sequence Variant
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288116.1:p.Ser362=	S (Ser) > S (Ser)	Synonymous Variant
LINGO1 transcript variant 2	NM_001301186.2:c.1086C>T	S [TCC] > S [TCT]	Coding Sequence Variant
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288115.1:p.Ser362=	S (Ser) > S (Ser)	Synonymous Variant
LINGO1 transcript variant 9	NM_001301197.2:c.1086C>T	S [TCC] > S [TCT]	Coding Sequence Variant
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288126.1:p.Ser362=	S (Ser) > S (Ser)	Synonymous Variant
LINGO1 transcript variant 10	NM_001301198.2:c.1086C>T	S [TCC] > S [TCT]	Coding Sequence Variant
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288127.1:p.Ser362=	S (Ser) > S (Ser)	Synonymous Variant
LINGO1 transcript variant X1	XM_024450091.2:c.1086C>T	S [TCC] > S [TCT]	Coding Sequence Variant
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform X1	XP_024305859.1:p.Ser362=	S (Ser) > S (Ser)	Synonymous Variant
LINGO1 transcript variant X2	XM_017022682.2:c.1086C>T	S [TCC] > S [TCT]	Coding Sequence Variant
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform X1	XP_016878171.1:p.Ser362=	S (Ser) > S (Ser)	Synonymous Variant
LINGO1 transcript variant X3	XM_011522118.3:c.1086C>T	S [TCC] > S [TCT]	Coding Sequence Variant
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform X1	XP_011520420.1:p.Ser362=	S (Ser) > S (Ser)	Synonymous Variant

Gene: LOC105370906, uncharacterized LOC105370906 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105370906 transcript variant X2	XR_001751806.2:n.	N/A	Intron Variant
LOC105370906 transcript variant X3	XR_001751807.2:n.	N/A	Genic Downstream Transcript Variant
LOC105370906 transcript variant X1	XR_932495.2:n.	N/A	Genic Downstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 1290272 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001731091.2	Intellectual disability, autosomal recessive 64	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	G=	A
GRCh38.p14 chr 15	NC_000015.10:g.77614803=	NC_000015.10:g.77614803G>A
GRCh37.p13 chr 15	NC_000015.9:g.77907145=	NC_000015.9:g.77907145G>A
LINGO1 transcript variant 1	NM_032808.7:c.1104=	NM_032808.7:c.1104C>T
LINGO1 transcript variant 1	NM_032808.6:c.1104=	NM_032808.6:c.1104C>T
LINGO1 transcript	NM_032808.5:c.1104=	NM_032808.5:c.1104C>T
LINGO1 transcript variant X3	XM_011522118.3:c.1086=	XM_011522118.3:c.1086C>T
LINGO1 transcript variant X3	XM_011522118.2:c.1086=	XM_011522118.2:c.1086C>T
LINGO1 transcript variant X2	XM_011522118.1:c.1086=	XM_011522118.1:c.1086C>T
LINGO1 transcript variant X2	XM_017022682.2:c.1086=	XM_017022682.2:c.1086C>T
LINGO1 transcript variant X1	XM_017022682.1:c.1086=	XM_017022682.1:c.1086C>T
LINGO1 transcript variant 5	NM_001301191.2:c.1086=	NM_001301191.2:c.1086C>T
LINGO1 transcript variant 5	NM_001301191.1:c.1086=	NM_001301191.1:c.1086C>T
LINGO1 transcript variant 4	NM_001301189.2:c.1086=	NM_001301189.2:c.1086C>T
LINGO1 transcript variant 4	NM_001301189.1:c.1086=	NM_001301189.1:c.1086C>T
LINGO1 transcript variant 6	NM_001301192.2:c.1086=	NM_001301192.2:c.1086C>T
LINGO1 transcript variant 6	NM_001301192.1:c.1086=	NM_001301192.1:c.1086C>T
LINGO1 transcript variant 3	NM_001301187.2:c.1086=	NM_001301187.2:c.1086C>T
LINGO1 transcript variant 3	NM_001301187.1:c.1086=	NM_001301187.1:c.1086C>T
LINGO1 transcript variant X1	XM_024450091.2:c.1086=	XM_024450091.2:c.1086C>T
LINGO1 transcript variant X2	XM_024450091.1:c.1086=	XM_024450091.1:c.1086C>T
LINGO1 transcript variant 2	NM_001301186.2:c.1086=	NM_001301186.2:c.1086C>T
LINGO1 transcript variant 2	NM_001301186.1:c.1086=	NM_001301186.1:c.1086C>T
LINGO1 transcript variant 12	NM_001301200.2:c.1086=	NM_001301200.2:c.1086C>T
LINGO1 transcript variant 12	NM_001301200.1:c.1086=	NM_001301200.1:c.1086C>T
LINGO1 transcript variant 8	NM_001301195.2:c.1086=	NM_001301195.2:c.1086C>T
LINGO1 transcript variant 8	NM_001301195.1:c.1086=	NM_001301195.1:c.1086C>T
LINGO1 transcript variant 9	NM_001301197.2:c.1086=	NM_001301197.2:c.1086C>T
LINGO1 transcript variant 9	NM_001301197.1:c.1086=	NM_001301197.1:c.1086C>T
LINGO1 transcript variant 7	NM_001301194.2:c.1086=	NM_001301194.2:c.1086C>T
LINGO1 transcript variant 7	NM_001301194.1:c.1086=	NM_001301194.1:c.1086C>T
LINGO1 transcript variant 11	NM_001301199.2:c.1086=	NM_001301199.2:c.1086C>T
LINGO1 transcript variant 11	NM_001301199.1:c.1086=	NM_001301199.1:c.1086C>T
LINGO1 transcript variant 10	NM_001301198.2:c.1086=	NM_001301198.2:c.1086C>T
LINGO1 transcript variant 10	NM_001301198.1:c.1086=	NM_001301198.1:c.1086C>T
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform a precursor	NP_116197.4:p.Ser368=	NP_116197.4:p.Ser368=
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform X1	XP_011520420.1:p.Ser362=	XP_011520420.1:p.Ser362=
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform X1	XP_016878171.1:p.Ser362=	XP_016878171.1:p.Ser362=
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288120.1:p.Ser362=	NP_001288120.1:p.Ser362=
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288118.1:p.Ser362=	NP_001288118.1:p.Ser362=
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288121.1:p.Ser362=	NP_001288121.1:p.Ser362=
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288116.1:p.Ser362=	NP_001288116.1:p.Ser362=
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform X1	XP_024305859.1:p.Ser362=	XP_024305859.1:p.Ser362=
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288115.1:p.Ser362=	NP_001288115.1:p.Ser362=
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288129.1:p.Ser362=	NP_001288129.1:p.Ser362=
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288124.1:p.Ser362=	NP_001288124.1:p.Ser362=
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288126.1:p.Ser362=	NP_001288126.1:p.Ser362=
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288123.1:p.Ser362=	NP_001288123.1:p.Ser362=
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288128.1:p.Ser362=	NP_001288128.1:p.Ser362=
leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor	NP_001288127.1:p.Ser362=	NP_001288127.1:p.Ser362=

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

130 SubSNP, 26 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss4929488	Aug 28, 2002 (107)
2	APPLERA_GI	ss48408756	Mar 15, 2006 (126)
3	ILLUMINA	ss65742549	Oct 15, 2006 (127)
4	ILLUMINA	ss74901206	Dec 07, 2007 (129)
5	AFFY	ss76723592	Dec 07, 2007 (129)
6	HGSV	ss80274659	Dec 16, 2007 (130)
7	HGSV	ss83592137	Dec 16, 2007 (130)
8	HGSV	ss85642972	Dec 16, 2007 (130)
9	BGI	ss106442519	Feb 06, 2009 (130)
10	1000GENOMES	ss114413986	Jan 25, 2009 (130)
11	KRIBB_YJKIM	ss119458724	Dec 01, 2009 (131)
12	GMI	ss156753119	Dec 01, 2009 (131)
13	ILLUMINA	ss160634725	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss168346500	Jul 04, 2010 (132)
15	COMPLETE_GENOMICS	ss169952577	Jul 04, 2010 (132)
16	ILLUMINA	ss173619297	Jul 04, 2010 (132)
17	BUSHMAN	ss201056922	Jul 04, 2010 (132)
18	BCM-HGSC-SUB	ss207404911	Jul 04, 2010 (132)
19	1000GENOMES	ss226984063	Jul 14, 2010 (132)
20	1000GENOMES	ss236843091	Jul 15, 2010 (132)
21	1000GENOMES	ss243218263	Jul 15, 2010 (132)
22	BL	ss255126414	May 09, 2011 (134)
23	GMI	ss282324718	May 04, 2012 (137)
24	GMI	ss286985732	Apr 25, 2013 (138)
25	ILLUMINA	ss480810019	May 04, 2012 (137)
26	ILLUMINA	ss480825696	May 04, 2012 (137)
27	ILLUMINA	ss481753727	Sep 08, 2015 (146)
28	ILLUMINA	ss485199824	May 04, 2012 (137)
29	1000GENOMES	ss491088409	May 04, 2012 (137)
30	CLINSEQ_SNP	ss491704840	May 04, 2012 (137)
31	ILLUMINA	ss537186867	Sep 08, 2015 (146)
32	TISHKOFF	ss564588881	Apr 25, 2013 (138)
33	SSMP	ss660326103	Apr 25, 2013 (138)
34	NHLBI-ESP	ss713247058	Apr 25, 2013 (138)
35	ILLUMINA	ss778521732	Sep 08, 2015 (146)
36	ILLUMINA	ss783045914	Sep 08, 2015 (146)
37	ILLUMINA	ss784004827	Sep 08, 2015 (146)
38	ILLUMINA	ss832303696	Sep 08, 2015 (146)
39	ILLUMINA	ss833978148	Sep 08, 2015 (146)
40	JMKIDD_LAB	ss974492149	Aug 21, 2014 (142)
41	EVA-GONL	ss991973768	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1067554561	Aug 21, 2014 (142)
43	JMKIDD_LAB	ss1080261855	Aug 21, 2014 (142)
44	1000GENOMES	ss1354201484	Aug 21, 2014 (142)
45	DDI	ss1427682802	Apr 01, 2015 (144)
46	EVA_GENOME_DK	ss1577709853	Apr 01, 2015 (144)
47	EVA_FINRISK	ss1584095444	Apr 01, 2015 (144)
48	EVA_UK10K_ALSPAC	ss1633394920	Apr 01, 2015 (144)
49	EVA_UK10K_TWINSUK	ss1676388953	Apr 01, 2015 (144)
50	EVA_EXAC	ss1691942684	Apr 01, 2015 (144)
51	EVA_DECODE	ss1696000512	Apr 01, 2015 (144)
52	EVA_MGP	ss1711405035	Apr 01, 2015 (144)
53	EVA_SVP	ss1713503761	Apr 01, 2015 (144)
54	ILLUMINA	ss1752172108	Sep 08, 2015 (146)
55	HAMMER_LAB	ss1808284808	Sep 08, 2015 (146)
56	WEILL_CORNELL_DGM	ss1935376656	Feb 12, 2016 (147)
57	GENOMED	ss1968151063	Jul 19, 2016 (147)
58	JJLAB	ss2028470064	Sep 14, 2016 (149)
59	USC_VALOUEV	ss2156878200	Dec 20, 2016 (150)
60	HUMAN_LONGEVITY	ss2208311832	Dec 20, 2016 (150)
61	SYSTEMSBIOZJU	ss2628729817	Nov 08, 2017 (151)
62	ILLUMINA	ss2633252996	Nov 08, 2017 (151)
63	GRF	ss2701358060	Nov 08, 2017 (151)
64	GNOMAD	ss2741426168	Nov 08, 2017 (151)
65	GNOMAD	ss2749359155	Nov 08, 2017 (151)
66	GNOMAD	ss2937028762	Nov 08, 2017 (151)
67	SWEGEN	ss3013581524	Nov 08, 2017 (151)
68	EVA_SAMSUNG_MC	ss3023069211	Nov 08, 2017 (151)
69	BIOINF_KMB_FNS_UNIBA	ss3028059271	Nov 08, 2017 (151)
70	CSHL	ss3351195976	Nov 08, 2017 (151)
71	ILLUMINA	ss3627405035	Oct 12, 2018 (152)
72	ILLUMINA	ss3631244194	Oct 12, 2018 (152)
73	ILLUMINA	ss3633103445	Oct 12, 2018 (152)
74	ILLUMINA	ss3633808360	Oct 12, 2018 (152)
75	ILLUMINA	ss3634615747	Oct 12, 2018 (152)
76	ILLUMINA	ss3635497137	Oct 12, 2018 (152)
77	ILLUMINA	ss3636305626	Oct 12, 2018 (152)
78	ILLUMINA	ss3637248447	Oct 12, 2018 (152)
79	ILLUMINA	ss3638096663	Oct 12, 2018 (152)
80	ILLUMINA	ss3640323068	Oct 12, 2018 (152)
81	ILLUMINA	ss3643080134	Oct 12, 2018 (152)
82	OMUKHERJEE_ADBS	ss3646477694	Oct 12, 2018 (152)
83	EGCUT_WGS	ss3680725608	Jul 13, 2019 (153)
84	EVA_DECODE	ss3698255434	Jul 13, 2019 (153)
85	ACPOP	ss3741080838	Jul 13, 2019 (153)
86	ILLUMINA	ss3744916270	Jul 13, 2019 (153)
87	EVA	ss3753316169	Jul 13, 2019 (153)
88	ILLUMINA	ss3772414818	Jul 13, 2019 (153)
89	PACBIO	ss3787898630	Jul 13, 2019 (153)
90	PACBIO	ss3792901983	Jul 13, 2019 (153)
91	PACBIO	ss3797786548	Jul 13, 2019 (153)
92	KHV_HUMAN_GENOMES	ss3818620788	Jul 13, 2019 (153)
93	EVA	ss3824942783	Apr 27, 2020 (154)
94	EVA	ss3825530027	Apr 27, 2020 (154)
95	EVA	ss3825544957	Apr 27, 2020 (154)
96	EVA	ss3825863943	Apr 27, 2020 (154)
97	EVA	ss3834325352	Apr 27, 2020 (154)
98	SGDP_PRJ	ss3883298388	Apr 27, 2020 (154)
99	KRGDB	ss3932525218	Apr 27, 2020 (154)
100	FSA-LAB	ss3984078051	Apr 27, 2021 (155)
101	EVA	ss3984704238	Apr 27, 2021 (155)
102	EVA	ss3985727768	Apr 27, 2021 (155)
103	EVA	ss3986068011	Apr 27, 2021 (155)
104	EVA	ss3986657696	Apr 27, 2021 (155)
105	EVA	ss4017711542	Apr 27, 2021 (155)
106	TOPMED	ss4997910800	Apr 27, 2021 (155)
107	TOMMO_GENOMICS	ss5217059485	Apr 27, 2021 (155)
108	EVA	ss5236925954	Apr 27, 2021 (155)
109	EVA	ss5237230970	Apr 27, 2021 (155)
110	1000G_HIGH_COVERAGE	ss5299087490	Oct 16, 2022 (156)
111	EVA	ss5315798174	Oct 16, 2022 (156)
112	EVA	ss5420422214	Oct 16, 2022 (156)
113	HUGCELL_USP	ss5492749850	Oct 16, 2022 (156)
114	EVA	ss5511488285	Oct 16, 2022 (156)
115	1000G_HIGH_COVERAGE	ss5600814247	Oct 16, 2022 (156)
116	EVA	ss5623965113	Oct 16, 2022 (156)
117	EVA	ss5624055220	Oct 16, 2022 (156)
118	SANFORD_IMAGENETICS	ss5657872168	Oct 16, 2022 (156)
119	TOMMO_GENOMICS	ss5771125537	Oct 16, 2022 (156)
120	EVA	ss5799454389	Oct 16, 2022 (156)
121	EVA	ss5799942956	Oct 16, 2022 (156)
122	EVA	ss5800195179	Oct 16, 2022 (156)
123	YY_MCH	ss5815495131	Oct 16, 2022 (156)
124	EVA	ss5828451210	Oct 16, 2022 (156)
125	EVA	ss5848407883	Oct 16, 2022 (156)
126	EVA	ss5851367434	Oct 16, 2022 (156)
127	EVA	ss5876622742	Oct 16, 2022 (156)
128	EVA	ss5936560970	Oct 16, 2022 (156)
129	EVA	ss5949290692	Oct 16, 2022 (156)
130	EVA	ss5980882508	Oct 16, 2022 (156)
131	1000Genomes	NC_000015.9 - 77907145	Oct 12, 2018 (152)
132	1000Genomes_30x	NC_000015.10 - 77614803	Oct 16, 2022 (156)
133	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 77907145	Oct 12, 2018 (152)
134	Chileans	NC_000015.9 - 77907145	Apr 27, 2020 (154)
135	Genetic variation in the Estonian population	NC_000015.9 - 77907145	Oct 12, 2018 (152)
136	ExAC	NC_000015.9 - 77907145	Oct 12, 2018 (152)
137	FINRISK	NC_000015.9 - 77907145	Apr 27, 2020 (154)
138	The Danish reference pan genome	NC_000015.9 - 77907145	Apr 27, 2020 (154)
139	gnomAD - Genomes	NC_000015.10 - 77614803	Apr 27, 2021 (155)
140	gnomAD - Exomes	NC_000015.9 - 77907145	Jul 13, 2019 (153)
141	GO Exome Sequencing Project	NC_000015.9 - 77907145	Oct 12, 2018 (152)
142	Genome of the Netherlands Release 5	NC_000015.9 - 77907145	Apr 27, 2020 (154)
143	HapMap	NC_000015.10 - 77614803	Apr 27, 2020 (154)
144	KOREAN population from KRGDB	NC_000015.9 - 77907145	Apr 27, 2020 (154)
145	Medical Genome Project healthy controls from Spanish population	NC_000015.9 - 77907145	Apr 27, 2020 (154)
146	Northern Sweden	NC_000015.9 - 77907145	Jul 13, 2019 (153)
147	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000015.9 - 77907145	Apr 27, 2021 (155)
148	CNV burdens in cranial meningiomas	NC_000015.9 - 77907145	Apr 27, 2021 (155)
149	Qatari	NC_000015.9 - 77907145	Apr 27, 2020 (154)
150	SGDP_PRJ	NC_000015.9 - 77907145	Apr 27, 2020 (154)
151	Siberian	NC_000015.9 - 77907145	Apr 27, 2020 (154)
152	8.3KJPN	NC_000015.9 - 77907145	Apr 27, 2021 (155)
153	14KJPN	NC_000015.10 - 77614803	Oct 16, 2022 (156)
154	TopMed	NC_000015.10 - 77614803	Apr 27, 2021 (155)
155	UK 10K study - Twins	NC_000015.9 - 77907145	Oct 12, 2018 (152)
156	ALFA	NC_000015.10 - 77614803	Apr 27, 2021 (155)
157	ClinVar	RCV001731091.2	Oct 16, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs61663003	May 27, 2008 (130)
rs386585276	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss80274659, ss83592137, ss85642972, ss114413986, ss168346500, ss169952577, ss201056922, ss207404911, ss255126414, ss282324718, ss286985732, ss480810019, ss491704840, ss1696000512, ss1713503761, ss3643080134	NC_000015.8:75694199:G:A	NC_000015.10:77614802:G:A	(self)
67299718, 37373547, 156773, 26463856, 2324980, 91905, 3930582, 10693229, 1400033, 16676574, 39702612, 520795, 14365703, 953695, 253763, 17418586, 35315368, 9394554, 75028792, 37373547, ss226984063, ss236843091, ss243218263, ss480825696, ss481753727, ss485199824, ss491088409, ss537186867, ss564588881, ss660326103, ss713247058, ss778521732, ss783045914, ss784004827, ss832303696, ss833978148, ss974492149, ss991973768, ss1067554561, ss1080261855, ss1354201484, ss1427682802, ss1577709853, ss1584095444, ss1633394920, ss1676388953, ss1691942684, ss1711405035, ss1752172108, ss1808284808, ss1935376656, ss1968151063, ss2028470064, ss2156878200, ss2628729817, ss2633252996, ss2701358060, ss2741426168, ss2749359155, ss2937028762, ss3013581524, ss3023069211, ss3351195976, ss3627405035, ss3631244194, ss3633103445, ss3633808360, ss3634615747, ss3635497137, ss3636305626, ss3637248447, ss3638096663, ss3640323068, ss3646477694, ss3680725608, ss3741080838, ss3744916270, ss3753316169, ss3772414818, ss3787898630, ss3792901983, ss3797786548, ss3824942783, ss3825530027, ss3825544957, ss3825863943, ss3834325352, ss3883298388, ss3932525218, ss3984078051, ss3984704238, ss3985727768, ss3986068011, ss3986657696, ss4017711542, ss5217059485, ss5315798174, ss5420422214, ss5511488285, ss5623965113, ss5624055220, ss5657872168, ss5799454389, ss5799942956, ss5800195179, ss5828451210, ss5848407883, ss5936560970, ss5949290692, ss5980882508	NC_000015.9:77907144:G:A	NC_000015.10:77614802:G:A	(self)
RCV001731091.2, 88340182, 474504939, 1298053, 104962641, 213456460, 8484268901, ss2208311832, ss3028059271, ss3698255434, ss3818620788, ss4997910800, ss5236925954, ss5237230970, ss5299087490, ss5492749850, ss5600814247, ss5771125537, ss5815495131, ss5851367434, ss5876622742	NC_000015.10:77614802:G:A	NC_000015.10:77614802:G:A	(self)
ss4929488, ss48408756, ss65742549, ss74901206, ss76723592, ss106442519, ss119458724, ss156753119, ss160634725, ss173619297	NT_010194.17:48697701:G:A	NC_000015.10:77614802:G:A	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

3 citations for rs3743481

PMID	Title	Author	Year	Journal
20369371	LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease.	Vilariño-Güell C et al.	2010	Neurogenetics
20372186	Replication of the LINGO1 gene association with essential tremor in a North American population.	Clark LN et al.	2010	European journal of human genetics
23754655	Genetic analysis of the leucine-rich repeat and lg domain containing Nogo receptor-interacting protein 1 gene in essential tremor.	Liang H et al.	2013	Journal of molecular neuroscience

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs3743481