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dbSNP Short Genetic Variations

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.

rs11208923

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:66616759 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.144834 (38336/264690, TOPMED)
G=0.133782 (18756/140198, GnomAD)
G=0.13621 (3880/28486, ALFA) (+ 19 more)
G=0.45371 (12821/28258, 14KJPN)
G=0.45937 (7699/16760, 8.3KJPN)
G=0.2325 (1489/6404, 1000G_30x)
G=0.2426 (1215/5008, 1000G)
G=0.1315 (589/4480, Estonian)
G=0.1238 (477/3854, ALSPAC)
G=0.1284 (476/3708, TWINSUK)
G=0.4437 (1300/2930, KOREAN)
G=0.2172 (411/1892, HapMap)
G=0.4563 (836/1832, Korea1K)
G=0.143 (143/998, GoNL)
G=0.224 (140/626, Chileans)
G=0.162 (97/600, NorthernSweden)
A=0.342 (91/266, SGDP_PRJ)
G=0.287 (62/216, Qatari)
G=0.463 (100/216, Vietnamese)
G=0.05 (2/40, GENOME_DK)
G=0.06 (2/36, Ancient Sardinia)
A=0.43 (6/14, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SGIP1 : Intron 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 28486 A=0.86379 G=0.13621
European Sub 17482 A=0.86792 G=0.13208
African Sub 6258 A=0.9086 G=0.0914
African Others Sub 210 A=0.948 G=0.052
African American Sub 6048 A=0.9072 G=0.0928
Asian Sub 160 A=0.463 G=0.537
East Asian Sub 104 A=0.481 G=0.519
Other Asian Sub 56 A=0.43 G=0.57
Latin American 1 Sub 292 A=0.812 G=0.188
Latin American 2 Sub 2770 A=0.7975 G=0.2025
South Asian Sub 112 A=0.643 G=0.357
Other Sub 1412 A=0.8180 G=0.1820


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 A=0.855166 G=0.144834
gnomAD - Genomes Global Study-wide 140198 A=0.866218 G=0.133782
gnomAD - Genomes European Sub 75934 A=0.86723 G=0.13277
gnomAD - Genomes African Sub 42022 A=0.91300 G=0.08700
gnomAD - Genomes American Sub 13652 A=0.81109 G=0.18891
gnomAD - Genomes Ashkenazi Jewish Sub 3318 A=0.8044 G=0.1956
gnomAD - Genomes East Asian Sub 3122 A=0.5372 G=0.4628
gnomAD - Genomes Other Sub 2150 A=0.8395 G=0.1605
Allele Frequency Aggregator Total Global 28486 A=0.86379 G=0.13621
Allele Frequency Aggregator European Sub 17482 A=0.86792 G=0.13208
Allele Frequency Aggregator African Sub 6258 A=0.9086 G=0.0914
Allele Frequency Aggregator Latin American 2 Sub 2770 A=0.7975 G=0.2025
Allele Frequency Aggregator Other Sub 1412 A=0.8180 G=0.1820
Allele Frequency Aggregator Latin American 1 Sub 292 A=0.812 G=0.188
Allele Frequency Aggregator Asian Sub 160 A=0.463 G=0.537
Allele Frequency Aggregator South Asian Sub 112 A=0.643 G=0.357
14KJPN JAPANESE Study-wide 28258 A=0.54629 G=0.45371
8.3KJPN JAPANESE Study-wide 16760 A=0.54063 G=0.45937
1000Genomes_30x Global Study-wide 6404 A=0.7675 G=0.2325
1000Genomes_30x African Sub 1786 A=0.9311 G=0.0689
1000Genomes_30x Europe Sub 1266 A=0.8807 G=0.1193
1000Genomes_30x South Asian Sub 1202 A=0.5815 G=0.4185
1000Genomes_30x East Asian Sub 1170 A=0.5547 G=0.4453
1000Genomes_30x American Sub 980 A=0.805 G=0.195
1000Genomes Global Study-wide 5008 A=0.7574 G=0.2426
1000Genomes African Sub 1322 A=0.9319 G=0.0681
1000Genomes East Asian Sub 1008 A=0.5506 G=0.4494
1000Genomes Europe Sub 1006 A=0.8797 G=0.1203
1000Genomes South Asian Sub 978 A=0.577 G=0.423
1000Genomes American Sub 694 A=0.803 G=0.197
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8685 G=0.1315
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8762 G=0.1238
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8716 G=0.1284
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5563 G=0.4437
HapMap Global Study-wide 1892 A=0.7828 G=0.2172
HapMap American Sub 770 A=0.730 G=0.270
HapMap African Sub 692 A=0.905 G=0.095
HapMap Asian Sub 254 A=0.547 G=0.453
HapMap Europe Sub 176 A=0.875 G=0.125
Korean Genome Project KOREAN Study-wide 1832 A=0.5437 G=0.4563
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.857 G=0.143
Chileans Chilean Study-wide 626 A=0.776 G=0.224
Northern Sweden ACPOP Study-wide 600 A=0.838 G=0.162
SGDP_PRJ Global Study-wide 266 A=0.342 G=0.658
Qatari Global Study-wide 216 A=0.713 G=0.287
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.537 G=0.463
The Danish reference pan genome Danish Study-wide 40 A=0.95 G=0.05
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 36 A=0.94 G=0.06
Siberian Global Study-wide 14 A=0.43 G=0.57
Help

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.66616759A>G
GRCh37.p13 chr 1 NC_000001.10:g.67082442A>G
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.11-9088A…

NM_001308203.2:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 3 NM_001350217.2:c.11-9088A…

NM_001350217.2:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 4 NM_001350218.2:c.11-9088A…

NM_001350218.2:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 5 NM_001376534.1:c.11-9088A…

NM_001376534.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 6 NM_001376535.1:c.11-9088A…

NM_001376535.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 7 NM_001376536.1:c.11-9088A…

NM_001376536.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 8 NM_001376537.1:c.11-9088A…

NM_001376537.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 9 NM_001376538.1:c.11-9088A…

NM_001376538.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 10 NM_001376539.1:c.11-9088A…

NM_001376539.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 11 NM_001376540.1:c.11-9088A…

NM_001376540.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 12 NM_001376541.1:c.11-9088A…

NM_001376541.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 13 NM_001376542.1:c.11-9088A…

NM_001376542.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 14 NM_001376543.1:c.11-9088A…

NM_001376543.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 15 NM_001376544.1:c.11-9088A…

NM_001376544.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 16 NM_001376545.1:c.11-9088A…

NM_001376545.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 17 NM_001376546.1:c.11-9088A…

NM_001376546.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 18 NM_001376547.1:c.11-9088A…

NM_001376547.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 19 NM_001376548.1:c.11-9088A…

NM_001376548.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 20 NM_001376549.1:c.11-9088A…

NM_001376549.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 21 NM_001376550.1:c.11-9088A…

NM_001376550.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 22 NM_001376551.1:c.11-9088A…

NM_001376551.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 23 NM_001376552.1:c.11-9088A…

NM_001376552.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 24 NM_001376554.1:c.11-9088A…

NM_001376554.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 25 NM_001376555.1:c.11-9088A…

NM_001376555.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 26 NM_001376556.1:c.11-9088A…

NM_001376556.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 27 NM_001376557.1:c.11-9088A…

NM_001376557.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant 1 NM_032291.4:c.11-9088A>G N/A Intron Variant
SGIP1 transcript variant X26 XM_005271270.5:c.11-9088A…

XM_005271270.5:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X6 XM_006710961.3:c.11-9088A…

XM_006710961.3:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X12 XM_006710971.3:c.11-9088A…

XM_006710971.3:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X14 XM_006710973.3:c.11-9088A…

XM_006710973.3:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X13 XM_011542291.2:c.11-9088A…

XM_011542291.2:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X21 XM_011542292.2:c.11-9088A…

XM_011542292.2:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X1 XM_017002505.2:c.11-9088A…

XM_017002505.2:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X2 XM_017002506.2:c.11-9088A…

XM_017002506.2:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X3 XM_017002507.2:c.11-9088A…

XM_017002507.2:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X4 XM_017002508.2:c.11-9088A…

XM_017002508.2:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X5 XM_017002510.2:c.11-9088A…

XM_017002510.2:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X9 XM_017002515.2:c.11-9088A…

XM_017002515.2:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X10 XM_017002516.2:c.11-9088A…

XM_017002516.2:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X11 XM_017002524.2:c.11-9088A…

XM_017002524.2:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X19 XM_017002528.2:c.11-9088A…

XM_017002528.2:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X20 XM_017002529.2:c.11-9088A…

XM_017002529.2:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X7 XM_047432051.1:c.11-9088A…

XM_047432051.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X8 XM_047432052.1:c.11-9088A…

XM_047432052.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X15 XM_047432053.1:c.11-9088A…

XM_047432053.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X16 XM_047432054.1:c.11-9088A…

XM_047432054.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X17 XM_047432055.1:c.11-9088A…

XM_047432055.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X18 XM_047432056.1:c.11-9088A…

XM_047432056.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X22 XM_047432057.1:c.11-9088A…

XM_047432057.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X23 XM_047432058.1:c.11-9088A…

XM_047432058.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X24 XM_047432059.1:c.11-9088A…

XM_047432059.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X25 XM_047432060.1:c.11-9088A…

XM_047432060.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X28 XM_047432061.1:c.11-9088A…

XM_047432061.1:c.11-9088A>G

N/A Intron Variant
SGIP1 transcript variant X27 XR_007064415.1:n. N/A Intron Variant
Help

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
Help

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 A= G
GRCh38.p14 chr 1 NC_000001.11:g.66616759= NC_000001.11:g.66616759A>G
GRCh37.p13 chr 1 NC_000001.10:g.67082442= NC_000001.10:g.67082442A>G
SGIP1 transcript variant 2 NM_001308203.2:c.11-9088= NM_001308203.2:c.11-9088A>G
SGIP1 transcript variant 3 NM_001350217.2:c.11-9088= NM_001350217.2:c.11-9088A>G
SGIP1 transcript variant 4 NM_001350218.2:c.11-9088= NM_001350218.2:c.11-9088A>G
SGIP1 transcript variant 5 NM_001376534.1:c.11-9088= NM_001376534.1:c.11-9088A>G
SGIP1 transcript variant 6 NM_001376535.1:c.11-9088= NM_001376535.1:c.11-9088A>G
SGIP1 transcript variant 7 NM_001376536.1:c.11-9088= NM_001376536.1:c.11-9088A>G
SGIP1 transcript variant 8 NM_001376537.1:c.11-9088= NM_001376537.1:c.11-9088A>G
SGIP1 transcript variant 9 NM_001376538.1:c.11-9088= NM_001376538.1:c.11-9088A>G
SGIP1 transcript variant 10 NM_001376539.1:c.11-9088= NM_001376539.1:c.11-9088A>G
SGIP1 transcript variant 11 NM_001376540.1:c.11-9088= NM_001376540.1:c.11-9088A>G
SGIP1 transcript variant 12 NM_001376541.1:c.11-9088= NM_001376541.1:c.11-9088A>G
SGIP1 transcript variant 13 NM_001376542.1:c.11-9088= NM_001376542.1:c.11-9088A>G
SGIP1 transcript variant 14 NM_001376543.1:c.11-9088= NM_001376543.1:c.11-9088A>G
SGIP1 transcript variant 15 NM_001376544.1:c.11-9088= NM_001376544.1:c.11-9088A>G
SGIP1 transcript variant 16 NM_001376545.1:c.11-9088= NM_001376545.1:c.11-9088A>G
SGIP1 transcript variant 17 NM_001376546.1:c.11-9088= NM_001376546.1:c.11-9088A>G
SGIP1 transcript variant 18 NM_001376547.1:c.11-9088= NM_001376547.1:c.11-9088A>G
SGIP1 transcript variant 19 NM_001376548.1:c.11-9088= NM_001376548.1:c.11-9088A>G
SGIP1 transcript variant 20 NM_001376549.1:c.11-9088= NM_001376549.1:c.11-9088A>G
SGIP1 transcript variant 21 NM_001376550.1:c.11-9088= NM_001376550.1:c.11-9088A>G
SGIP1 transcript variant 22 NM_001376551.1:c.11-9088= NM_001376551.1:c.11-9088A>G
SGIP1 transcript variant 23 NM_001376552.1:c.11-9088= NM_001376552.1:c.11-9088A>G
SGIP1 transcript variant 24 NM_001376554.1:c.11-9088= NM_001376554.1:c.11-9088A>G
SGIP1 transcript variant 25 NM_001376555.1:c.11-9088= NM_001376555.1:c.11-9088A>G
SGIP1 transcript variant 26 NM_001376556.1:c.11-9088= NM_001376556.1:c.11-9088A>G
SGIP1 transcript variant 27 NM_001376557.1:c.11-9088= NM_001376557.1:c.11-9088A>G
SGIP1 transcript NM_032291.2:c.11-9088= NM_032291.2:c.11-9088A>G
SGIP1 transcript variant 1 NM_032291.4:c.11-9088= NM_032291.4:c.11-9088A>G
SGIP1 transcript variant X1 XM_005271262.1:c.11-9088= XM_005271262.1:c.11-9088A>G
SGIP1 transcript variant X2 XM_005271263.1:c.11-9088= XM_005271263.1:c.11-9088A>G
SGIP1 transcript variant X3 XM_005271264.1:c.11-9088= XM_005271264.1:c.11-9088A>G
SGIP1 transcript variant X4 XM_005271265.1:c.11-9088= XM_005271265.1:c.11-9088A>G
SGIP1 transcript variant X5 XM_005271266.1:c.11-9088= XM_005271266.1:c.11-9088A>G
SGIP1 transcript variant X6 XM_005271267.1:c.11-9088= XM_005271267.1:c.11-9088A>G
SGIP1 transcript variant X7 XM_005271268.1:c.11-9088= XM_005271268.1:c.11-9088A>G
SGIP1 transcript variant X8 XM_005271269.1:c.11-9088= XM_005271269.1:c.11-9088A>G
SGIP1 transcript variant X9 XM_005271270.1:c.11-9088= XM_005271270.1:c.11-9088A>G
SGIP1 transcript variant X26 XM_005271270.5:c.11-9088= XM_005271270.5:c.11-9088A>G
SGIP1 transcript variant X10 XM_005271271.1:c.11-9088= XM_005271271.1:c.11-9088A>G
SGIP1 transcript variant X6 XM_006710961.3:c.11-9088= XM_006710961.3:c.11-9088A>G
SGIP1 transcript variant X12 XM_006710971.3:c.11-9088= XM_006710971.3:c.11-9088A>G
SGIP1 transcript variant X14 XM_006710973.3:c.11-9088= XM_006710973.3:c.11-9088A>G
SGIP1 transcript variant X13 XM_011542291.2:c.11-9088= XM_011542291.2:c.11-9088A>G
SGIP1 transcript variant X21 XM_011542292.2:c.11-9088= XM_011542292.2:c.11-9088A>G
SGIP1 transcript variant X1 XM_017002505.2:c.11-9088= XM_017002505.2:c.11-9088A>G
SGIP1 transcript variant X2 XM_017002506.2:c.11-9088= XM_017002506.2:c.11-9088A>G
SGIP1 transcript variant X3 XM_017002507.2:c.11-9088= XM_017002507.2:c.11-9088A>G
SGIP1 transcript variant X4 XM_017002508.2:c.11-9088= XM_017002508.2:c.11-9088A>G
SGIP1 transcript variant X5 XM_017002510.2:c.11-9088= XM_017002510.2:c.11-9088A>G
SGIP1 transcript variant X9 XM_017002515.2:c.11-9088= XM_017002515.2:c.11-9088A>G
SGIP1 transcript variant X10 XM_017002516.2:c.11-9088= XM_017002516.2:c.11-9088A>G
SGIP1 transcript variant X11 XM_017002524.2:c.11-9088= XM_017002524.2:c.11-9088A>G
SGIP1 transcript variant X19 XM_017002528.2:c.11-9088= XM_017002528.2:c.11-9088A>G
SGIP1 transcript variant X20 XM_017002529.2:c.11-9088= XM_017002529.2:c.11-9088A>G
SGIP1 transcript variant X7 XM_047432051.1:c.11-9088= XM_047432051.1:c.11-9088A>G
SGIP1 transcript variant X8 XM_047432052.1:c.11-9088= XM_047432052.1:c.11-9088A>G
SGIP1 transcript variant X15 XM_047432053.1:c.11-9088= XM_047432053.1:c.11-9088A>G
SGIP1 transcript variant X16 XM_047432054.1:c.11-9088= XM_047432054.1:c.11-9088A>G
SGIP1 transcript variant X17 XM_047432055.1:c.11-9088= XM_047432055.1:c.11-9088A>G
SGIP1 transcript variant X18 XM_047432056.1:c.11-9088= XM_047432056.1:c.11-9088A>G
SGIP1 transcript variant X22 XM_047432057.1:c.11-9088= XM_047432057.1:c.11-9088A>G
SGIP1 transcript variant X23 XM_047432058.1:c.11-9088= XM_047432058.1:c.11-9088A>G
SGIP1 transcript variant X24 XM_047432059.1:c.11-9088= XM_047432059.1:c.11-9088A>G
SGIP1 transcript variant X25 XM_047432060.1:c.11-9088= XM_047432060.1:c.11-9088A>G
SGIP1 transcript variant X28 XM_047432061.1:c.11-9088= XM_047432061.1:c.11-9088A>G
Help

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#.

68 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18075344 Feb 27, 2004 (120)
2 SC_SNP ss18248902 Feb 27, 2004 (120)
3 SSAHASNP ss20507353 Apr 05, 2004 (121)
4 PERLEGEN ss23848051 Sep 20, 2004 (123)
5 ABI ss41174632 Mar 15, 2006 (126)
6 AFFY ss66082248 Nov 29, 2006 (127)
7 AFFY ss76024993 Dec 06, 2007 (129)
8 KRIBB_YJKIM ss82874819 Dec 14, 2007 (130)
9 HUMANGENOME_JCVI ss99214583 Feb 06, 2009 (130)
10 1000GENOMES ss108272526 Jan 23, 2009 (130)
11 ENSEMBL ss131806786 Dec 01, 2009 (131)
12 GMI ss155117330 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss164462849 Jul 04, 2010 (132)
14 AFFY ss170558161 Jul 04, 2010 (132)
15 BUSHMAN ss198563690 Jul 04, 2010 (132)
16 1000GENOMES ss230567570 Jul 14, 2010 (132)
17 1000GENOMES ss238255892 Jul 15, 2010 (132)
18 GMI ss275858921 May 04, 2012 (137)
19 PJP ss290528352 May 09, 2011 (134)
20 TISHKOFF ss554205219 Apr 25, 2013 (138)
21 SSMP ss648077049 Apr 25, 2013 (138)
22 EVA-GONL ss975245229 Aug 21, 2014 (142)
23 JMKIDD_LAB ss1067952505 Aug 21, 2014 (142)
24 1000GENOMES ss1291214905 Aug 21, 2014 (142)
25 EVA_GENOME_DK ss1574119303 Apr 01, 2015 (144)
26 EVA_DECODE ss1584614662 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1600345980 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1643340013 Apr 01, 2015 (144)
29 EVA_SVP ss1712340076 Apr 01, 2015 (144)
30 WEILL_CORNELL_DGM ss1918453115 Feb 12, 2016 (147)
31 GENOMED ss1966766068 Jul 19, 2016 (147)
32 JJLAB ss2019743918 Sep 14, 2016 (149)
33 USC_VALOUEV ss2147759682 Dec 20, 2016 (150)
34 HUMAN_LONGEVITY ss2163176354 Dec 20, 2016 (150)
35 SYSTEMSBIOZJU ss2624385575 Nov 08, 2017 (151)
36 GRF ss2697677135 Nov 08, 2017 (151)
37 GNOMAD ss2756057035 Nov 08, 2017 (151)
38 SWEGEN ss2986946087 Nov 08, 2017 (151)
39 BIOINF_KMB_FNS_UNIBA ss3023633621 Nov 08, 2017 (151)
40 CSHL ss3343492038 Nov 08, 2017 (151)
41 URBANLAB ss3646680823 Oct 11, 2018 (152)
42 EGCUT_WGS ss3655016048 Jul 12, 2019 (153)
43 EVA_DECODE ss3686930565 Jul 12, 2019 (153)
44 ACPOP ss3727117903 Jul 12, 2019 (153)
45 EVA ss3746304584 Jul 12, 2019 (153)
46 PACBIO ss3783432479 Jul 12, 2019 (153)
47 PACBIO ss3789087166 Jul 12, 2019 (153)
48 PACBIO ss3793959947 Jul 12, 2019 (153)
49 KHV_HUMAN_GENOMES ss3799311209 Jul 12, 2019 (153)
50 EVA ss3826213811 Apr 25, 2020 (154)
51 SGDP_PRJ ss3849015944 Apr 25, 2020 (154)
52 KRGDB ss3894043203 Apr 25, 2020 (154)
53 KOGIC ss3944670143 Apr 25, 2020 (154)
54 EVA ss3984802081 Apr 27, 2021 (155)
55 TOPMED ss4452577187 Apr 27, 2021 (155)
56 TOMMO_GENOMICS ss5144310919 Apr 27, 2021 (155)
57 1000G_HIGH_COVERAGE ss5242548907 Oct 17, 2022 (156)
58 EVA ss5319242374 Oct 17, 2022 (156)
59 HUGCELL_USP ss5443583939 Oct 17, 2022 (156)
60 EVA ss5505879263 Oct 17, 2022 (156)
61 1000G_HIGH_COVERAGE ss5514966270 Oct 17, 2022 (156)
62 SANFORD_IMAGENETICS ss5625689401 Oct 17, 2022 (156)
63 TOMMO_GENOMICS ss5669186242 Oct 17, 2022 (156)
64 YY_MCH ss5800666896 Oct 17, 2022 (156)
65 EVA ss5832068337 Oct 17, 2022 (156)
66 EVA ss5848941009 Oct 17, 2022 (156)
67 EVA ss5908583871 Oct 17, 2022 (156)
68 EVA ss5937528023 Oct 17, 2022 (156)
69 1000Genomes NC_000001.10 - 67082442 Oct 11, 2018 (152)
70 1000Genomes_30x NC_000001.11 - 66616759 Oct 17, 2022 (156)
71 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 67082442 Oct 11, 2018 (152)
72 Chileans NC_000001.10 - 67082442 Apr 25, 2020 (154)
73 Genetic variation in the Estonian population NC_000001.10 - 67082442 Oct 11, 2018 (152)
74 The Danish reference pan genome NC_000001.10 - 67082442 Apr 25, 2020 (154)
75 gnomAD - Genomes NC_000001.11 - 66616759 Apr 27, 2021 (155)
76 Genome of the Netherlands Release 5 NC_000001.10 - 67082442 Apr 25, 2020 (154)
77 HapMap NC_000001.11 - 66616759 Apr 25, 2020 (154)
78 KOREAN population from KRGDB NC_000001.10 - 67082442 Apr 25, 2020 (154)
79 Korean Genome Project NC_000001.11 - 66616759 Apr 25, 2020 (154)
80 Northern Sweden NC_000001.10 - 67082442 Jul 12, 2019 (153)
81 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 67082442 Apr 27, 2021 (155)
82 Qatari NC_000001.10 - 67082442 Apr 25, 2020 (154)
83 SGDP_PRJ NC_000001.10 - 67082442 Apr 25, 2020 (154)
84 Siberian NC_000001.10 - 67082442 Apr 25, 2020 (154)
85 8.3KJPN NC_000001.10 - 67082442 Apr 27, 2021 (155)
86 14KJPN NC_000001.11 - 66616759 Oct 17, 2022 (156)
87 TopMed NC_000001.11 - 66616759 Apr 27, 2021 (155)
88 UK 10K study - Twins NC_000001.10 - 67082442 Oct 11, 2018 (152)
89 A Vietnamese Genetic Variation Database NC_000001.10 - 67082442 Jul 12, 2019 (153)
90 ALFA NC_000001.11 - 66616759 Apr 27, 2021 (155)
Help

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)
rs57351055 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss108272526, ss164462849, ss198563690, ss275858921, ss290528352, ss1584614662, ss1712340076 NC_000001.9:66855029:A:G NC_000001.11:66616758:A:G (self)
1944739, 1065398, 10917, 754296, 1535482, 454770, 1220597, 402768, 28008, 495045, 1032924, 276036, 2280226, 1065398, 222980, ss230567570, ss238255892, ss554205219, ss648077049, ss975245229, ss1067952505, ss1291214905, ss1574119303, ss1600345980, ss1643340013, ss1918453115, ss1966766068, ss2019743918, ss2147759682, ss2624385575, ss2697677135, ss2756057035, ss2986946087, ss3343492038, ss3655016048, ss3727117903, ss3746304584, ss3783432479, ss3789087166, ss3793959947, ss3826213811, ss3849015944, ss3894043203, ss3984802081, ss5144310919, ss5319242374, ss5505879263, ss5625689401, ss5832068337, ss5937528023 NC_000001.10:67082441:A:G NC_000001.11:66616758:A:G (self)
2492205, 13713430, 87389, 1048144, 3023346, 16183522, 5027732581, ss2163176354, ss3023633621, ss3646680823, ss3686930565, ss3799311209, ss3944670143, ss4452577187, ss5242548907, ss5443583939, ss5514966270, ss5669186242, ss5800666896, ss5848941009, ss5908583871 NC_000001.11:66616758:A:G NC_000001.11:66616758:A:G (self)
ss18075344, ss18248902, ss20507353 NT_032977.6:28645511:A:G NC_000001.11:66616758:A:G (self)
ss23848051, ss41174632, ss66082248, ss76024993, ss82874819, ss99214583, ss131806786, ss155117330, ss170558161 NT_032977.9:37054359:A:G NC_000001.11:66616758:A:G (self)
Help

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

No publications for rs11208923

Help

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
Top Help

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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post774+babeb33