Name: rs7512692
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.

rs7512692

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:66627252 (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: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.136567 (36148/264690, TOPMED)
T=0.130706 (18246/139596, GnomAD)
T=0.27797 (7855/28258, 14KJPN) (+ 16 more)
T=0.13595 (2551/18764, ALFA)
T=0.27411 (4594/16760, 8.3KJPN)
T=0.1557 (997/6404, 1000G_30x)
T=0.1558 (780/5008, 1000G)
T=0.1511 (677/4480, Estonian)
T=0.1593 (614/3854, ALSPAC)
T=0.1607 (596/3708, TWINSUK)
T=0.2805 (822/2930, KOREAN)
T=0.137 (137/998, GoNL)
T=0.177 (106/600, NorthernSweden)
T=0.125 (27/216, Qatari)
T=0.213 (46/216, Vietnamese)
C=0.412 (80/194, SGDP_PRJ)
T=0.008 (1/118, HapMap)
T=0.05 (2/40, GENOME_DK)
C=0.27 (8/30, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SGIP1 : Intron Variant
MIR3117 : 2KB Upstream Variant
Publications: 0 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	18764	C=0.86405	G=0.00000, T=0.13595
European	Sub	14172	C=0.85175	G=0.00000, T=0.14825
African	Sub	2916	C=0.9654	G=0.0000, T=0.0346
African Others	Sub	112	C=0.982	G=0.000, T=0.018
African American	Sub	2804	C=0.9647	G=0.0000, T=0.0353
Asian	Sub	114	C=0.719	G=0.000, T=0.281
East Asian	Sub	88	C=0.70	G=0.00, T=0.30
Other Asian	Sub	26	C=0.77	G=0.00, T=0.23
Latin American 1	Sub	146	C=0.849	G=0.000, T=0.151
Latin American 2	Sub	610	C=0.689	G=0.000, T=0.311
South Asian	Sub	100	C=0.81	G=0.00, T=0.19
Other	Sub	706	C=0.878	G=0.000, T=0.122

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	C=0.863433	T=0.136567
gnomAD - Genomes	Global	Study-wide	139596	C=0.869294	T=0.130706
gnomAD - Genomes	European	Sub	75640	C=0.84160	T=0.15840
gnomAD - Genomes	African	Sub	41806	C=0.96202	T=0.03798
gnomAD - Genomes	American	Sub	13582	C=0.79142	T=0.20858
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.8316	T=0.1684
gnomAD - Genomes	East Asian	Sub	3116	C=0.6813	T=0.3187
gnomAD - Genomes	Other	Sub	2132	C=0.8630	T=0.1370
14KJPN	JAPANESE	Study-wide	28258	C=0.72203	T=0.27797
Allele Frequency Aggregator	Total	Global	18764	C=0.86405	G=0.00000, T=0.13595
Allele Frequency Aggregator	European	Sub	14172	C=0.85175	G=0.00000, T=0.14825
Allele Frequency Aggregator	African	Sub	2916	C=0.9654	G=0.0000, T=0.0346
Allele Frequency Aggregator	Other	Sub	706	C=0.878	G=0.000, T=0.122
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.689	G=0.000, T=0.311
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.849	G=0.000, T=0.151
Allele Frequency Aggregator	Asian	Sub	114	C=0.719	G=0.000, T=0.281
Allele Frequency Aggregator	South Asian	Sub	100	C=0.81	G=0.00, T=0.19
8.3KJPN	JAPANESE	Study-wide	16760	C=0.72589	T=0.27411
1000Genomes_30x	Global	Study-wide	6404	C=0.8443	T=0.1557
1000Genomes_30x	African	Sub	1786	C=0.9894	T=0.0106
1000Genomes_30x	Europe	Sub	1266	C=0.8626	T=0.1374
1000Genomes_30x	South Asian	Sub	1202	C=0.8602	T=0.1398
1000Genomes_30x	East Asian	Sub	1170	C=0.6872	T=0.3128
1000Genomes_30x	American	Sub	980	C=0.724	T=0.276
1000Genomes	Global	Study-wide	5008	C=0.8442	T=0.1558
1000Genomes	African	Sub	1322	C=0.9887	T=0.0113
1000Genomes	East Asian	Sub	1008	C=0.6915	T=0.3085
1000Genomes	Europe	Sub	1006	C=0.8598	T=0.1402
1000Genomes	South Asian	Sub	978	C=0.863	T=0.137
1000Genomes	American	Sub	694	C=0.742	T=0.258
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8489	T=0.1511
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8407	T=0.1593
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8393	T=0.1607
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7195	A=0.0000, T=0.2805
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.863	T=0.137
Northern Sweden	ACPOP	Study-wide	600	C=0.823	T=0.177
Qatari	Global	Study-wide	216	C=0.875	T=0.125
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.787	T=0.213
SGDP_PRJ	Global	Study-wide	194	C=0.412	T=0.588
HapMap	Global	Study-wide	118	C=0.992	T=0.008
HapMap	African	Sub	118	C=0.992	T=0.008
The Danish reference pan genome	Danish	Study-wide	40	C=0.95	T=0.05
Siberian	Global	Study-wide	30	C=0.27	T=0.73

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 1	NC_000001.11:g.66627252C>A
GRCh38.p14 chr 1	NC_000001.11:g.66627252C>G
GRCh38.p14 chr 1	NC_000001.11:g.66627252C>T
GRCh37.p13 chr 1	NC_000001.10:g.67092935C>A
GRCh37.p13 chr 1	NC_000001.10:g.67092935C>G
GRCh37.p13 chr 1	NC_000001.10:g.67092935C>T

Gene: SGIP1, SH3GL interacting endocytic adaptor 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SGIP1 transcript variant 2	NM_001308203.2:c.74+1342C… NM_001308203.2:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 3	NM_001350217.2:c.74+1342C… NM_001350217.2:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 4	NM_001350218.2:c.74+1342C… NM_001350218.2:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 5	NM_001376534.1:c.74+1342C… NM_001376534.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 6	NM_001376535.1:c.74+1342C… NM_001376535.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 7	NM_001376536.1:c.74+1342C… NM_001376536.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 8	NM_001376537.1:c.74+1342C… NM_001376537.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 9	NM_001376538.1:c.74+1342C… NM_001376538.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 10	NM_001376539.1:c.74+1342C… NM_001376539.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 11	NM_001376540.1:c.74+1342C… NM_001376540.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 12	NM_001376541.1:c.74+1342C… NM_001376541.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 13	NM_001376542.1:c.74+1342C… NM_001376542.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 14	NM_001376543.1:c.74+1342C… NM_001376543.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 15	NM_001376544.1:c.74+1342C… NM_001376544.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 16	NM_001376545.1:c.74+1342C… NM_001376545.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 17	NM_001376546.1:c.74+1342C… NM_001376546.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 18	NM_001376547.1:c.74+1342C… NM_001376547.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 19	NM_001376548.1:c.74+1342C… NM_001376548.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 20	NM_001376549.1:c.74+1342C… NM_001376549.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 21	NM_001376550.1:c.74+1342C… NM_001376550.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 22	NM_001376551.1:c.74+1342C… NM_001376551.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 23	NM_001376552.1:c.74+1342C… NM_001376552.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 24	NM_001376554.1:c.74+1342C… NM_001376554.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 25	NM_001376555.1:c.74+1342C… NM_001376555.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 26	NM_001376556.1:c.74+1342C… NM_001376556.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 27	NM_001376557.1:c.74+1342C… NM_001376557.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant 1	NM_032291.4:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X26	XM_005271270.5:c.74+1342C… XM_005271270.5:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X6	XM_006710961.3:c.74+1342C… XM_006710961.3:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X12	XM_006710971.3:c.74+1342C… XM_006710971.3:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X14	XM_006710973.3:c.74+1342C… XM_006710973.3:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X13	XM_011542291.2:c.74+1342C… XM_011542291.2:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X21	XM_011542292.2:c.74+1342C… XM_011542292.2:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X1	XM_017002505.2:c.74+1342C… XM_017002505.2:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X2	XM_017002506.2:c.74+1342C… XM_017002506.2:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X3	XM_017002507.2:c.74+1342C… XM_017002507.2:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X4	XM_017002508.2:c.74+1342C… XM_017002508.2:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X5	XM_017002510.2:c.74+1342C… XM_017002510.2:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X9	XM_017002515.2:c.74+1342C… XM_017002515.2:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X10	XM_017002516.2:c.74+1342C… XM_017002516.2:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X11	XM_017002524.2:c.74+1342C… XM_017002524.2:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X19	XM_017002528.2:c.74+1342C… XM_017002528.2:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X20	XM_017002529.2:c.74+1342C… XM_017002529.2:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X7	XM_047432051.1:c.74+1342C… XM_047432051.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X8	XM_047432052.1:c.74+1342C… XM_047432052.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X15	XM_047432053.1:c.74+1342C… XM_047432053.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X16	XM_047432054.1:c.74+1342C… XM_047432054.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X17	XM_047432055.1:c.74+1342C… XM_047432055.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X18	XM_047432056.1:c.74+1342C… XM_047432056.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X22	XM_047432057.1:c.74+1342C… XM_047432057.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X23	XM_047432058.1:c.74+1342C… XM_047432058.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X24	XM_047432059.1:c.74+1342C… XM_047432059.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X25	XM_047432060.1:c.74+1342C… XM_047432060.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X28	XM_047432061.1:c.74+1342C… XM_047432061.1:c.74+1342C>A	N/A	Intron Variant
SGIP1 transcript variant X27	XR_007064415.1:n.	N/A	Intron Variant

Gene: MIR3117, microRNA 3117 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
MIR3117 transcript	NR_036060.1:n.	N/A	Upstream 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.

Not Reported in ClinVar

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	C=	A	G	T
GRCh38.p14 chr 1	NC_000001.11:g.66627252=	NC_000001.11:g.66627252C>A	NC_000001.11:g.66627252C>G	NC_000001.11:g.66627252C>T
GRCh37.p13 chr 1	NC_000001.10:g.67092935=	NC_000001.10:g.67092935C>A	NC_000001.10:g.67092935C>G	NC_000001.10:g.67092935C>T
SGIP1 transcript variant 2	NM_001308203.2:c.74+1342=	NM_001308203.2:c.74+1342C>A	NM_001308203.2:c.74+1342C>G	NM_001308203.2:c.74+1342C>T
SGIP1 transcript variant 3	NM_001350217.2:c.74+1342=	NM_001350217.2:c.74+1342C>A	NM_001350217.2:c.74+1342C>G	NM_001350217.2:c.74+1342C>T
SGIP1 transcript variant 4	NM_001350218.2:c.74+1342=	NM_001350218.2:c.74+1342C>A	NM_001350218.2:c.74+1342C>G	NM_001350218.2:c.74+1342C>T
SGIP1 transcript variant 5	NM_001376534.1:c.74+1342=	NM_001376534.1:c.74+1342C>A	NM_001376534.1:c.74+1342C>G	NM_001376534.1:c.74+1342C>T
SGIP1 transcript variant 6	NM_001376535.1:c.74+1342=	NM_001376535.1:c.74+1342C>A	NM_001376535.1:c.74+1342C>G	NM_001376535.1:c.74+1342C>T
SGIP1 transcript variant 7	NM_001376536.1:c.74+1342=	NM_001376536.1:c.74+1342C>A	NM_001376536.1:c.74+1342C>G	NM_001376536.1:c.74+1342C>T
SGIP1 transcript variant 8	NM_001376537.1:c.74+1342=	NM_001376537.1:c.74+1342C>A	NM_001376537.1:c.74+1342C>G	NM_001376537.1:c.74+1342C>T
SGIP1 transcript variant 9	NM_001376538.1:c.74+1342=	NM_001376538.1:c.74+1342C>A	NM_001376538.1:c.74+1342C>G	NM_001376538.1:c.74+1342C>T
SGIP1 transcript variant 10	NM_001376539.1:c.74+1342=	NM_001376539.1:c.74+1342C>A	NM_001376539.1:c.74+1342C>G	NM_001376539.1:c.74+1342C>T
SGIP1 transcript variant 11	NM_001376540.1:c.74+1342=	NM_001376540.1:c.74+1342C>A	NM_001376540.1:c.74+1342C>G	NM_001376540.1:c.74+1342C>T
SGIP1 transcript variant 12	NM_001376541.1:c.74+1342=	NM_001376541.1:c.74+1342C>A	NM_001376541.1:c.74+1342C>G	NM_001376541.1:c.74+1342C>T
SGIP1 transcript variant 13	NM_001376542.1:c.74+1342=	NM_001376542.1:c.74+1342C>A	NM_001376542.1:c.74+1342C>G	NM_001376542.1:c.74+1342C>T
SGIP1 transcript variant 14	NM_001376543.1:c.74+1342=	NM_001376543.1:c.74+1342C>A	NM_001376543.1:c.74+1342C>G	NM_001376543.1:c.74+1342C>T
SGIP1 transcript variant 15	NM_001376544.1:c.74+1342=	NM_001376544.1:c.74+1342C>A	NM_001376544.1:c.74+1342C>G	NM_001376544.1:c.74+1342C>T
SGIP1 transcript variant 16	NM_001376545.1:c.74+1342=	NM_001376545.1:c.74+1342C>A	NM_001376545.1:c.74+1342C>G	NM_001376545.1:c.74+1342C>T
SGIP1 transcript variant 17	NM_001376546.1:c.74+1342=	NM_001376546.1:c.74+1342C>A	NM_001376546.1:c.74+1342C>G	NM_001376546.1:c.74+1342C>T
SGIP1 transcript variant 18	NM_001376547.1:c.74+1342=	NM_001376547.1:c.74+1342C>A	NM_001376547.1:c.74+1342C>G	NM_001376547.1:c.74+1342C>T
SGIP1 transcript variant 19	NM_001376548.1:c.74+1342=	NM_001376548.1:c.74+1342C>A	NM_001376548.1:c.74+1342C>G	NM_001376548.1:c.74+1342C>T
SGIP1 transcript variant 20	NM_001376549.1:c.74+1342=	NM_001376549.1:c.74+1342C>A	NM_001376549.1:c.74+1342C>G	NM_001376549.1:c.74+1342C>T
SGIP1 transcript variant 21	NM_001376550.1:c.74+1342=	NM_001376550.1:c.74+1342C>A	NM_001376550.1:c.74+1342C>G	NM_001376550.1:c.74+1342C>T
SGIP1 transcript variant 22	NM_001376551.1:c.74+1342=	NM_001376551.1:c.74+1342C>A	NM_001376551.1:c.74+1342C>G	NM_001376551.1:c.74+1342C>T
SGIP1 transcript variant 23	NM_001376552.1:c.74+1342=	NM_001376552.1:c.74+1342C>A	NM_001376552.1:c.74+1342C>G	NM_001376552.1:c.74+1342C>T
SGIP1 transcript variant 24	NM_001376554.1:c.74+1342=	NM_001376554.1:c.74+1342C>A	NM_001376554.1:c.74+1342C>G	NM_001376554.1:c.74+1342C>T
SGIP1 transcript variant 25	NM_001376555.1:c.74+1342=	NM_001376555.1:c.74+1342C>A	NM_001376555.1:c.74+1342C>G	NM_001376555.1:c.74+1342C>T
SGIP1 transcript variant 26	NM_001376556.1:c.74+1342=	NM_001376556.1:c.74+1342C>A	NM_001376556.1:c.74+1342C>G	NM_001376556.1:c.74+1342C>T
SGIP1 transcript variant 27	NM_001376557.1:c.74+1342=	NM_001376557.1:c.74+1342C>A	NM_001376557.1:c.74+1342C>G	NM_001376557.1:c.74+1342C>T
SGIP1 transcript	NM_032291.2:c.74+1342=	NM_032291.2:c.74+1342C>A	NM_032291.2:c.74+1342C>G	NM_032291.2:c.74+1342C>T
SGIP1 transcript variant 1	NM_032291.4:c.74+1342=	NM_032291.4:c.74+1342C>A	NM_032291.4:c.74+1342C>G	NM_032291.4:c.74+1342C>T
SGIP1 transcript variant X1	XM_005271262.1:c.74+1342=	XM_005271262.1:c.74+1342C>A	XM_005271262.1:c.74+1342C>G	XM_005271262.1:c.74+1342C>T
SGIP1 transcript variant X2	XM_005271263.1:c.74+1342=	XM_005271263.1:c.74+1342C>A	XM_005271263.1:c.74+1342C>G	XM_005271263.1:c.74+1342C>T
SGIP1 transcript variant X3	XM_005271264.1:c.74+1342=	XM_005271264.1:c.74+1342C>A	XM_005271264.1:c.74+1342C>G	XM_005271264.1:c.74+1342C>T
SGIP1 transcript variant X4	XM_005271265.1:c.74+1342=	XM_005271265.1:c.74+1342C>A	XM_005271265.1:c.74+1342C>G	XM_005271265.1:c.74+1342C>T
SGIP1 transcript variant X5	XM_005271266.1:c.74+1342=	XM_005271266.1:c.74+1342C>A	XM_005271266.1:c.74+1342C>G	XM_005271266.1:c.74+1342C>T
SGIP1 transcript variant X6	XM_005271267.1:c.74+1342=	XM_005271267.1:c.74+1342C>A	XM_005271267.1:c.74+1342C>G	XM_005271267.1:c.74+1342C>T
SGIP1 transcript variant X7	XM_005271268.1:c.74+1342=	XM_005271268.1:c.74+1342C>A	XM_005271268.1:c.74+1342C>G	XM_005271268.1:c.74+1342C>T
SGIP1 transcript variant X8	XM_005271269.1:c.74+1342=	XM_005271269.1:c.74+1342C>A	XM_005271269.1:c.74+1342C>G	XM_005271269.1:c.74+1342C>T
SGIP1 transcript variant X9	XM_005271270.1:c.74+1342=	XM_005271270.1:c.74+1342C>A	XM_005271270.1:c.74+1342C>G	XM_005271270.1:c.74+1342C>T
SGIP1 transcript variant X26	XM_005271270.5:c.74+1342=	XM_005271270.5:c.74+1342C>A	XM_005271270.5:c.74+1342C>G	XM_005271270.5:c.74+1342C>T
SGIP1 transcript variant X10	XM_005271271.1:c.74+1342=	XM_005271271.1:c.74+1342C>A	XM_005271271.1:c.74+1342C>G	XM_005271271.1:c.74+1342C>T
SGIP1 transcript variant X6	XM_006710961.3:c.74+1342=	XM_006710961.3:c.74+1342C>A	XM_006710961.3:c.74+1342C>G	XM_006710961.3:c.74+1342C>T
SGIP1 transcript variant X12	XM_006710971.3:c.74+1342=	XM_006710971.3:c.74+1342C>A	XM_006710971.3:c.74+1342C>G	XM_006710971.3:c.74+1342C>T
SGIP1 transcript variant X14	XM_006710973.3:c.74+1342=	XM_006710973.3:c.74+1342C>A	XM_006710973.3:c.74+1342C>G	XM_006710973.3:c.74+1342C>T
SGIP1 transcript variant X13	XM_011542291.2:c.74+1342=	XM_011542291.2:c.74+1342C>A	XM_011542291.2:c.74+1342C>G	XM_011542291.2:c.74+1342C>T
SGIP1 transcript variant X21	XM_011542292.2:c.74+1342=	XM_011542292.2:c.74+1342C>A	XM_011542292.2:c.74+1342C>G	XM_011542292.2:c.74+1342C>T
SGIP1 transcript variant X1	XM_017002505.2:c.74+1342=	XM_017002505.2:c.74+1342C>A	XM_017002505.2:c.74+1342C>G	XM_017002505.2:c.74+1342C>T
SGIP1 transcript variant X2	XM_017002506.2:c.74+1342=	XM_017002506.2:c.74+1342C>A	XM_017002506.2:c.74+1342C>G	XM_017002506.2:c.74+1342C>T
SGIP1 transcript variant X3	XM_017002507.2:c.74+1342=	XM_017002507.2:c.74+1342C>A	XM_017002507.2:c.74+1342C>G	XM_017002507.2:c.74+1342C>T
SGIP1 transcript variant X4	XM_017002508.2:c.74+1342=	XM_017002508.2:c.74+1342C>A	XM_017002508.2:c.74+1342C>G	XM_017002508.2:c.74+1342C>T
SGIP1 transcript variant X5	XM_017002510.2:c.74+1342=	XM_017002510.2:c.74+1342C>A	XM_017002510.2:c.74+1342C>G	XM_017002510.2:c.74+1342C>T
SGIP1 transcript variant X9	XM_017002515.2:c.74+1342=	XM_017002515.2:c.74+1342C>A	XM_017002515.2:c.74+1342C>G	XM_017002515.2:c.74+1342C>T
SGIP1 transcript variant X10	XM_017002516.2:c.74+1342=	XM_017002516.2:c.74+1342C>A	XM_017002516.2:c.74+1342C>G	XM_017002516.2:c.74+1342C>T
SGIP1 transcript variant X11	XM_017002524.2:c.74+1342=	XM_017002524.2:c.74+1342C>A	XM_017002524.2:c.74+1342C>G	XM_017002524.2:c.74+1342C>T
SGIP1 transcript variant X19	XM_017002528.2:c.74+1342=	XM_017002528.2:c.74+1342C>A	XM_017002528.2:c.74+1342C>G	XM_017002528.2:c.74+1342C>T
SGIP1 transcript variant X20	XM_017002529.2:c.74+1342=	XM_017002529.2:c.74+1342C>A	XM_017002529.2:c.74+1342C>G	XM_017002529.2:c.74+1342C>T
SGIP1 transcript variant X7	XM_047432051.1:c.74+1342=	XM_047432051.1:c.74+1342C>A	XM_047432051.1:c.74+1342C>G	XM_047432051.1:c.74+1342C>T
SGIP1 transcript variant X8	XM_047432052.1:c.74+1342=	XM_047432052.1:c.74+1342C>A	XM_047432052.1:c.74+1342C>G	XM_047432052.1:c.74+1342C>T
SGIP1 transcript variant X15	XM_047432053.1:c.74+1342=	XM_047432053.1:c.74+1342C>A	XM_047432053.1:c.74+1342C>G	XM_047432053.1:c.74+1342C>T
SGIP1 transcript variant X16	XM_047432054.1:c.74+1342=	XM_047432054.1:c.74+1342C>A	XM_047432054.1:c.74+1342C>G	XM_047432054.1:c.74+1342C>T
SGIP1 transcript variant X17	XM_047432055.1:c.74+1342=	XM_047432055.1:c.74+1342C>A	XM_047432055.1:c.74+1342C>G	XM_047432055.1:c.74+1342C>T
SGIP1 transcript variant X18	XM_047432056.1:c.74+1342=	XM_047432056.1:c.74+1342C>A	XM_047432056.1:c.74+1342C>G	XM_047432056.1:c.74+1342C>T
SGIP1 transcript variant X22	XM_047432057.1:c.74+1342=	XM_047432057.1:c.74+1342C>A	XM_047432057.1:c.74+1342C>G	XM_047432057.1:c.74+1342C>T
SGIP1 transcript variant X23	XM_047432058.1:c.74+1342=	XM_047432058.1:c.74+1342C>A	XM_047432058.1:c.74+1342C>G	XM_047432058.1:c.74+1342C>T
SGIP1 transcript variant X24	XM_047432059.1:c.74+1342=	XM_047432059.1:c.74+1342C>A	XM_047432059.1:c.74+1342C>G	XM_047432059.1:c.74+1342C>T
SGIP1 transcript variant X25	XM_047432060.1:c.74+1342=	XM_047432060.1:c.74+1342C>A	XM_047432060.1:c.74+1342C>G	XM_047432060.1:c.74+1342C>T
SGIP1 transcript variant X28	XM_047432061.1:c.74+1342=	XM_047432061.1:c.74+1342C>A	XM_047432061.1:c.74+1342C>G	XM_047432061.1:c.74+1342C>T

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#.

51 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss11342646	Jul 11, 2003 (116)
2	COMPLETE_GENOMICS	ss166645172	Jul 04, 2010 (132)
3	1000GENOMES	ss230567616	Jul 14, 2010 (132)
4	1000GENOMES	ss238255939	Jul 15, 2010 (132)
5	GMI	ss275858968	May 04, 2012 (137)
6	TISHKOFF	ss554205328	Apr 25, 2013 (138)
7	SSMP	ss648077223	Apr 25, 2013 (138)
8	EVA-GONL	ss975245315	Aug 21, 2014 (142)
9	JMKIDD_LAB	ss1067952566	Aug 21, 2014 (142)
10	1000GENOMES	ss1291215174	Aug 21, 2014 (142)
11	DDI	ss1425836834	Apr 01, 2015 (144)
12	EVA_GENOME_DK	ss1574119379	Apr 01, 2015 (144)
13	EVA_DECODE	ss1584614758	Apr 01, 2015 (144)
14	EVA_UK10K_ALSPAC	ss1600346144	Apr 01, 2015 (144)
15	EVA_UK10K_TWINSUK	ss1643340177	Apr 01, 2015 (144)
16	WEILL_CORNELL_DGM	ss1918453197	Feb 12, 2016 (147)
17	GENOMED	ss1966766109	Jul 19, 2016 (147)
18	JJLAB	ss2019743973	Sep 14, 2016 (149)
19	USC_VALOUEV	ss2147759739	Dec 20, 2016 (150)
20	HUMAN_LONGEVITY	ss2163176998	Dec 20, 2016 (150)
21	SYSTEMSBIOZJU	ss2624385620	Nov 08, 2017 (151)
22	GRF	ss2697677197	Nov 08, 2017 (151)
23	GNOMAD	ss2756057833	Nov 08, 2017 (151)
24	SWEGEN	ss2986946211	Nov 08, 2017 (151)
25	BIOINF_KMB_FNS_UNIBA	ss3023633661	Nov 08, 2017 (151)
26	CSHL	ss3343492089	Nov 08, 2017 (151)
27	EGCUT_WGS	ss3655016176	Jul 12, 2019 (153)
28	EVA_DECODE	ss3686930721	Jul 12, 2019 (153)
29	ACPOP	ss3727117978	Jul 12, 2019 (153)
30	EVA	ss3746304675	Jul 12, 2019 (153)
31	PACBIO	ss3783432523	Jul 12, 2019 (153)
32	PACBIO	ss3789087210	Jul 12, 2019 (153)
33	PACBIO	ss3793959992	Jul 12, 2019 (153)
34	KHV_HUMAN_GENOMES	ss3799311316	Jul 12, 2019 (153)
35	EVA	ss3826213865	Apr 25, 2020 (154)
36	SGDP_PRJ	ss3849016089	Apr 25, 2020 (154)
37	KRGDB	ss3894043372	Apr 25, 2020 (154)
38	TOPMED	ss4452579900	Apr 27, 2021 (155)
39	TOMMO_GENOMICS	ss5144311213	Apr 27, 2021 (155)
40	1000G_HIGH_COVERAGE	ss5242549118	Oct 17, 2022 (156)
41	EVA	ss5319242864	Oct 17, 2022 (156)
42	HUGCELL_USP	ss5443584162	Oct 17, 2022 (156)
43	EVA	ss5505879329	Oct 17, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5514966614	Oct 17, 2022 (156)
45	SANFORD_IMAGENETICS	ss5625689542	Oct 17, 2022 (156)
46	TOMMO_GENOMICS	ss5669186628	Oct 17, 2022 (156)
47	YY_MCH	ss5800666978	Oct 17, 2022 (156)
48	EVA	ss5832068451	Oct 17, 2022 (156)
49	EVA	ss5848941064	Oct 17, 2022 (156)
50	EVA	ss5908584145	Oct 17, 2022 (156)
51	EVA	ss5937528187	Oct 17, 2022 (156)
52	1000Genomes	NC_000001.10 - 67092935	Oct 11, 2018 (152)
53	1000Genomes_30x	NC_000001.11 - 66627252	Oct 17, 2022 (156)
54	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 67092935	Oct 11, 2018 (152)
55	Genetic variation in the Estonian population	NC_000001.10 - 67092935	Oct 11, 2018 (152)
56	The Danish reference pan genome	NC_000001.10 - 67092935	Apr 25, 2020 (154)
57	gnomAD - Genomes	NC_000001.11 - 66627252	Apr 27, 2021 (155)
58	Genome of the Netherlands Release 5	NC_000001.10 - 67092935	Apr 25, 2020 (154)
59	HapMap	NC_000001.11 - 66627252	Apr 25, 2020 (154)
60	KOREAN population from KRGDB	NC_000001.10 - 67092935	Apr 25, 2020 (154)
61	Northern Sweden	NC_000001.10 - 67092935	Jul 12, 2019 (153)
62	Qatari	NC_000001.10 - 67092935	Apr 25, 2020 (154)
63	SGDP_PRJ	NC_000001.10 - 67092935	Apr 25, 2020 (154)
64	Siberian	NC_000001.10 - 67092935	Apr 25, 2020 (154)
65	8.3KJPN	NC_000001.10 - 67092935	Apr 27, 2021 (155)
66	14KJPN	NC_000001.11 - 66627252	Oct 17, 2022 (156)
67	TopMed	NC_000001.11 - 66627252	Apr 27, 2021 (155)
68	UK 10K study - Twins	NC_000001.10 - 67092935	Oct 11, 2018 (152)
69	A Vietnamese Genetic Variation Database	NC_000001.10 - 67092935	Jul 12, 2019 (153)
70	ALFA	NC_000001.11 - 66627252	Apr 27, 2021 (155)

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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1220766, ss3894043372	NC_000001.10:67092934:C:A	NC_000001.11:66627251:C:A	(self)
13436520807	NC_000001.11:66627251:C:G	NC_000001.11:66627251:C:G	(self)
ss166645172, ss275858968, ss1584614758	NC_000001.9:66865522:C:T	NC_000001.11:66627251:C:T	(self)
1945023, 1065573, 754424, 1535531, 454856, 1220766, 402843, 495127, 1033069, 276093, 2280520, 1065573, 223038, ss230567616, ss238255939, ss554205328, ss648077223, ss975245315, ss1067952566, ss1291215174, ss1425836834, ss1574119379, ss1600346144, ss1643340177, ss1918453197, ss1966766109, ss2019743973, ss2147759739, ss2624385620, ss2697677197, ss2756057833, ss2986946211, ss3343492089, ss3655016176, ss3727117978, ss3746304675, ss3783432523, ss3789087210, ss3793959992, ss3826213865, ss3849016089, ss3894043372, ss5144311213, ss5319242864, ss5505879329, ss5625689542, ss5832068451, ss5937528187	NC_000001.10:67092934:C:T	NC_000001.11:66627251:C:T	(self)
2492549, 13715492, 87420, 3023732, 16186235, 13436520807, ss2163176998, ss3023633661, ss3686930721, ss3799311316, ss4452579900, ss5242549118, ss5443584162, ss5514966614, ss5669186628, ss5800666978, ss5848941064, ss5908584145	NC_000001.11:66627251:C:T	NC_000001.11:66627251:C:T	(self)
ss11342646	NT_032977.5:19541845:C:T	NC_000001.11:66627251:C:T	(self)

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

No publications for rs7512692

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

rs7512692