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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.

rs28505970

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:1173095 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.198984 (52669/264690, TOPMED)
A=0.156913 (39075/249024, GnomAD_exome)
A=0.158882 (39525/248770, ALFA) (+ 25 more)
A=0.198935 (27866/140076, GnomAD)
A=0.162850 (19658/120712, ExAC)
A=0.21199 (16683/78696, PAGE_STUDY)
A=0.10471 (2959/28258, 14KJPN)
A=0.10650 (1785/16760, 8.3KJPN)
A=0.19968 (2470/12370, GO-ESP)
A=0.2108 (1350/6404, 1000G_30x)
A=0.2063 (1033/5008, 1000G)
A=0.1663 (745/4480, Estonian)
A=0.1533 (591/3854, ALSPAC)
A=0.1427 (529/3708, TWINSUK)
A=0.0860 (252/2930, KOREAN)
A=0.0830 (152/1832, Korea1K)
A=0.1549 (176/1136, Daghestan)
A=0.140 (140/998, GoNL)
A=0.090 (71/788, PRJEB37584)
A=0.109 (67/613, Vietnamese)
A=0.158 (95/600, NorthernSweden)
A=0.154 (82/534, MGP)
A=0.161 (49/304, FINRISK)
A=0.218 (47/216, Qatari)
C=0.446 (75/168, SGDP_PRJ)
A=0.12 (5/40, GENOME_DK)
C=0.5 (3/6, Siberian)
A=0.5 (3/6, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SNTG2 : Missense 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 265138 C=0.838756 A=0.161244
European Sub 214980 C=0.844334 A=0.155666
African Sub 14650 C=0.69454 A=0.30546
African Others Sub 520 C=0.669 A=0.331
African American Sub 14130 C=0.69547 A=0.30453
Asian Sub 6688 C=0.9215 A=0.0785
East Asian Sub 4800 C=0.9152 A=0.0848
Other Asian Sub 1888 C=0.9375 A=0.0625
Latin American 1 Sub 1244 C=0.7950 A=0.2050
Latin American 2 Sub 5278 C=0.8903 A=0.1097
South Asian Sub 362 C=0.787 A=0.213
Other Sub 21936 C=0.84610 A=0.15390


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 C=0.801016 A=0.198984
gnomAD - Exomes Global Study-wide 249024 C=0.843087 A=0.156913
gnomAD - Exomes European Sub 134414 C=0.849971 A=0.150029
gnomAD - Exomes Asian Sub 48556 C=0.83322 A=0.16678
gnomAD - Exomes American Sub 34486 C=0.90303 A=0.09697
gnomAD - Exomes African Sub 15480 C=0.68424 A=0.31576
gnomAD - Exomes Ashkenazi Jewish Sub 10044 C=0.83174 A=0.16826
gnomAD - Exomes Other Sub 6044 C=0.8529 A=0.1471
Allele Frequency Aggregator Total Global 248770 C=0.841118 A=0.158882
Allele Frequency Aggregator European Sub 204882 C=0.843886 A=0.156114
Allele Frequency Aggregator Other Sub 20498 C=0.84730 A=0.15270
Allele Frequency Aggregator African Sub 9818 C=0.6971 A=0.3029
Allele Frequency Aggregator Asian Sub 6688 C=0.9215 A=0.0785
Allele Frequency Aggregator Latin American 2 Sub 5278 C=0.8903 A=0.1097
Allele Frequency Aggregator Latin American 1 Sub 1244 C=0.7950 A=0.2050
Allele Frequency Aggregator South Asian Sub 362 C=0.787 A=0.213
gnomAD - Genomes Global Study-wide 140076 C=0.801065 A=0.198935
gnomAD - Genomes European Sub 75898 C=0.84922 A=0.15078
gnomAD - Genomes African Sub 41936 C=0.68423 A=0.31577
gnomAD - Genomes American Sub 13640 C=0.86034 A=0.13966
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=0.8220 A=0.1780
gnomAD - Genomes East Asian Sub 3132 C=0.9071 A=0.0929
gnomAD - Genomes Other Sub 2150 C=0.8172 A=0.1828
ExAC Global Study-wide 120712 C=0.837150 A=0.162850
ExAC Europe Sub 73310 C=0.84776 A=0.15224
ExAC Asian Sub 25124 C=0.83136 A=0.16864
ExAC American Sub 11576 C=0.91128 A=0.08872
ExAC African Sub 9806 C=0.6848 A=0.3152
ExAC Other Sub 896 C=0.842 A=0.158
The PAGE Study Global Study-wide 78696 C=0.78801 A=0.21199
The PAGE Study AfricanAmerican Sub 32510 C=0.69419 A=0.30581
The PAGE Study Mexican Sub 10810 C=0.88908 A=0.11092
The PAGE Study Asian Sub 8318 C=0.8869 A=0.1131
The PAGE Study PuertoRican Sub 7918 C=0.8300 A=0.1700
The PAGE Study NativeHawaiian Sub 4534 C=0.8703 A=0.1297
The PAGE Study Cuban Sub 4230 C=0.8028 A=0.1972
The PAGE Study Dominican Sub 3828 C=0.7589 A=0.2411
The PAGE Study CentralAmerican Sub 2450 C=0.8686 A=0.1314
The PAGE Study SouthAmerican Sub 1982 C=0.8829 A=0.1171
The PAGE Study NativeAmerican Sub 1260 C=0.8532 A=0.1468
The PAGE Study SouthAsian Sub 856 C=0.800 A=0.200
14KJPN JAPANESE Study-wide 28258 C=0.89529 A=0.10471
8.3KJPN JAPANESE Study-wide 16760 C=0.89350 A=0.10650
GO Exome Sequencing Project Global Study-wide 12370 C=0.80032 A=0.19968
GO Exome Sequencing Project European American Sub 8358 C=0.8492 A=0.1508
GO Exome Sequencing Project African American Sub 4012 C=0.6984 A=0.3016
1000Genomes_30x Global Study-wide 6404 C=0.7892 A=0.2108
1000Genomes_30x African Sub 1786 C=0.6299 A=0.3701
1000Genomes_30x Europe Sub 1266 C=0.8262 A=0.1738
1000Genomes_30x South Asian Sub 1202 C=0.7870 A=0.2130
1000Genomes_30x East Asian Sub 1170 C=0.8957 A=0.1043
1000Genomes_30x American Sub 980 C=0.907 A=0.093
1000Genomes Global Study-wide 5008 C=0.7937 A=0.2063
1000Genomes African Sub 1322 C=0.6392 A=0.3608
1000Genomes East Asian Sub 1008 C=0.8958 A=0.1042
1000Genomes Europe Sub 1006 C=0.8310 A=0.1690
1000Genomes South Asian Sub 978 C=0.782 A=0.218
1000Genomes American Sub 694 C=0.902 A=0.098
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8337 A=0.1663
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8467 A=0.1533
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8573 A=0.1427
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.9140 A=0.0860
Korean Genome Project KOREAN Study-wide 1832 C=0.9170 A=0.0830
Genome-wide autozygosity in Daghestan Global Study-wide 1136 C=0.8451 A=0.1549
Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.877 A=0.123
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.750 A=0.250
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.877 A=0.123
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.861 A=0.139
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.78 A=0.22
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.69 A=0.31
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.860 A=0.140
CNV burdens in cranial meningiomas Global Study-wide 788 C=0.910 A=0.090
CNV burdens in cranial meningiomas CRM Sub 788 C=0.910 A=0.090
A Vietnamese Genetic Variation Database Global Study-wide 613 C=0.891 A=0.109
Northern Sweden ACPOP Study-wide 600 C=0.842 A=0.158
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.846 A=0.154
FINRISK Finnish from FINRISK project Study-wide 304 C=0.839 A=0.161
Qatari Global Study-wide 216 C=0.782 A=0.218
SGDP_PRJ Global Study-wide 168 C=0.446 A=0.554
The Danish reference pan genome Danish Study-wide 40 C=0.88 A=0.12
Siberian Global Study-wide 6 C=0.5 A=0.5
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 2 NC_000002.12:g.1173095C>A
GRCh37.p13 chr 2 NC_000002.11:g.1168781C>A
SNTG2 RefSeqGene NG_029707.2:g.227248C>A
SNTG2 RefSeqGene NG_029707.1:g.227228C>A
Gene: SNTG2, syntrophin gamma 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SNTG2 transcript NM_018968.4:c.503C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin NP_061841.2:p.Ser168Tyr S (Ser) > Y (Tyr) Missense Variant
SNTG2 transcript variant X2 XM_017004362.1:c.506C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin isoform X2 XP_016859851.1:p.Ser169Tyr S (Ser) > Y (Tyr) Missense Variant
SNTG2 transcript variant X11 XM_017004370.1:c.506C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin isoform X11 XP_016859859.1:p.Ser169Tyr S (Ser) > Y (Tyr) Missense Variant
SNTG2 transcript variant X12 XM_017004371.1:c.506C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin isoform X12 XP_016859860.1:p.Ser169Tyr S (Ser) > Y (Tyr) Missense Variant
SNTG2 transcript variant X13 XM_017004372.1:c.506C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin isoform X12 XP_016859861.1:p.Ser169Tyr S (Ser) > Y (Tyr) Missense Variant
SNTG2 transcript variant X15 XM_017004374.1:c.506C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin isoform X13 XP_016859863.1:p.Ser169Tyr S (Ser) > Y (Tyr) Missense Variant
SNTG2 transcript variant X1 XM_017004361.2:c.506C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin isoform X1 XP_016859850.1:p.Ser169Tyr S (Ser) > Y (Tyr) Missense Variant
SNTG2 transcript variant X3 XM_017004363.2:c.326C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin isoform X3 XP_016859852.1:p.Ser109Tyr S (Ser) > Y (Tyr) Missense Variant
SNTG2 transcript variant X4 XM_017004364.2:c.284C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin isoform X4 XP_016859853.1:p.Ser95Tyr S (Ser) > Y (Tyr) Missense Variant
SNTG2 transcript variant X5 XM_017004365.2:c.506C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin isoform X5 XP_016859854.1:p.Ser169Tyr S (Ser) > Y (Tyr) Missense Variant
SNTG2 transcript variant X6 XM_017004366.2:c.506C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin isoform X6 XP_016859855.1:p.Ser169Tyr S (Ser) > Y (Tyr) Missense Variant
SNTG2 transcript variant X7 XM_047444794.1:c.164C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin isoform X7 XP_047300750.1:p.Ser55Tyr S (Ser) > Y (Tyr) Missense Variant
SNTG2 transcript variant X8 XM_017004368.2:c.506C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin isoform X8 XP_016859857.1:p.Ser169Tyr S (Ser) > Y (Tyr) Missense Variant
SNTG2 transcript variant X9 XM_047444795.1:c.503C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin isoform X9 XP_047300751.1:p.Ser168Tyr S (Ser) > Y (Tyr) Missense Variant
SNTG2 transcript variant X10 XM_017004369.2:c.506C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin isoform X10 XP_016859858.1:p.Ser169Tyr S (Ser) > Y (Tyr) Missense Variant
SNTG2 transcript variant X14 XM_047444798.1:c.506C>A S [TCC] > Y [TAC] Coding Sequence Variant
gamma-2-syntrophin isoform X13 XP_047300754.1:p.Ser169Tyr S (Ser) > Y (Tyr) Missense 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 C= A
GRCh38.p14 chr 2 NC_000002.12:g.1173095= NC_000002.12:g.1173095C>A
GRCh37.p13 chr 2 NC_000002.11:g.1168781= NC_000002.11:g.1168781C>A
SNTG2 RefSeqGene NG_029707.2:g.227248= NG_029707.2:g.227248C>A
SNTG2 RefSeqGene NG_029707.1:g.227228= NG_029707.1:g.227228C>A
SNTG2 transcript NM_018968.4:c.503= NM_018968.4:c.503C>A
SNTG2 transcript NM_018968.3:c.503= NM_018968.3:c.503C>A
SNTG2 transcript variant X4 XM_017004364.2:c.284= XM_017004364.2:c.284C>A
SNTG2 transcript variant X4 XM_017004364.1:c.284= XM_017004364.1:c.284C>A
SNTG2 transcript variant X10 XM_017004369.2:c.506= XM_017004369.2:c.506C>A
SNTG2 transcript variant X10 XM_017004369.1:c.506= XM_017004369.1:c.506C>A
SNTG2 transcript variant X6 XM_017004366.2:c.506= XM_017004366.2:c.506C>A
SNTG2 transcript variant X6 XM_017004366.1:c.506= XM_017004366.1:c.506C>A
SNTG2 transcript variant X1 XM_017004361.2:c.506= XM_017004361.2:c.506C>A
SNTG2 transcript variant X1 XM_017004361.1:c.506= XM_017004361.1:c.506C>A
SNTG2 transcript variant X3 XM_017004363.2:c.326= XM_017004363.2:c.326C>A
SNTG2 transcript variant X3 XM_017004363.1:c.326= XM_017004363.1:c.326C>A
SNTG2 transcript variant X5 XM_017004365.2:c.506= XM_017004365.2:c.506C>A
SNTG2 transcript variant X5 XM_017004365.1:c.506= XM_017004365.1:c.506C>A
SNTG2 transcript variant X8 XM_017004368.2:c.506= XM_017004368.2:c.506C>A
SNTG2 transcript variant X9 XM_017004368.1:c.506= XM_017004368.1:c.506C>A
SNTG2 transcript variant X11 XM_017004370.1:c.506= XM_017004370.1:c.506C>A
SNTG2 transcript variant X12 XM_017004371.1:c.506= XM_017004371.1:c.506C>A
SNTG2 transcript variant X14 XM_047444798.1:c.506= XM_047444798.1:c.506C>A
SNTG2 transcript variant X2 XM_017004362.1:c.506= XM_017004362.1:c.506C>A
SNTG2 transcript variant X7 XM_047444794.1:c.164= XM_047444794.1:c.164C>A
SNTG2 transcript variant X9 XM_047444795.1:c.503= XM_047444795.1:c.503C>A
SNTG2 transcript variant X13 XM_017004372.1:c.506= XM_017004372.1:c.506C>A
SNTG2 transcript variant X15 XM_017004374.1:c.506= XM_017004374.1:c.506C>A
gamma-2-syntrophin NP_061841.2:p.Ser168= NP_061841.2:p.Ser168Tyr
gamma-2-syntrophin isoform X4 XP_016859853.1:p.Ser95= XP_016859853.1:p.Ser95Tyr
gamma-2-syntrophin isoform X10 XP_016859858.1:p.Ser169= XP_016859858.1:p.Ser169Tyr
gamma-2-syntrophin isoform X6 XP_016859855.1:p.Ser169= XP_016859855.1:p.Ser169Tyr
gamma-2-syntrophin isoform X1 XP_016859850.1:p.Ser169= XP_016859850.1:p.Ser169Tyr
gamma-2-syntrophin isoform X3 XP_016859852.1:p.Ser109= XP_016859852.1:p.Ser109Tyr
gamma-2-syntrophin isoform X5 XP_016859854.1:p.Ser169= XP_016859854.1:p.Ser169Tyr
gamma-2-syntrophin isoform X8 XP_016859857.1:p.Ser169= XP_016859857.1:p.Ser169Tyr
gamma-2-syntrophin isoform X11 XP_016859859.1:p.Ser169= XP_016859859.1:p.Ser169Tyr
gamma-2-syntrophin isoform X12 XP_016859860.1:p.Ser169= XP_016859860.1:p.Ser169Tyr
gamma-2-syntrophin isoform X13 XP_047300754.1:p.Ser169= XP_047300754.1:p.Ser169Tyr
gamma-2-syntrophin isoform X2 XP_016859851.1:p.Ser169= XP_016859851.1:p.Ser169Tyr
gamma-2-syntrophin isoform X7 XP_047300750.1:p.Ser55= XP_047300750.1:p.Ser55Tyr
gamma-2-syntrophin isoform X9 XP_047300751.1:p.Ser168= XP_047300751.1:p.Ser168Tyr
gamma-2-syntrophin isoform X12 XP_016859861.1:p.Ser169= XP_016859861.1:p.Ser169Tyr
gamma-2-syntrophin isoform X13 XP_016859863.1:p.Ser169= XP_016859863.1:p.Ser169Tyr
SNTG2 transcript variant X1 XM_005264695.1:c.211-36008= XM_005264695.1:c.211-36008C>A
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#.

125 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss35250453 May 24, 2005 (125)
2 ABI ss44297355 Mar 13, 2006 (126)
3 APPLERA_GI ss48416497 Mar 13, 2006 (126)
4 BCMHGSC_JDW ss91027246 Mar 24, 2008 (129)
5 HUMANGENOME_JCVI ss97006237 Feb 04, 2009 (130)
6 1000GENOMES ss112156439 Jan 25, 2009 (130)
7 ILLUMINA-UK ss117559411 Feb 14, 2009 (130)
8 ILLUMINA ss120035917 Dec 01, 2009 (131)
9 ENSEMBL ss132813319 Dec 01, 2009 (131)
10 ENSEMBL ss138375516 Dec 01, 2009 (131)
11 ILLUMINA ss160589446 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss162996303 Jul 04, 2010 (132)
13 BUSHMAN ss199938413 Jul 04, 2010 (132)
14 1000GENOMES ss219019687 Jul 14, 2010 (132)
15 1000GENOMES ss231005010 Jul 14, 2010 (132)
16 1000GENOMES ss238597910 Jul 15, 2010 (132)
17 GMI ss276321104 May 04, 2012 (137)
18 PJP ss292252555 May 09, 2011 (134)
19 ILLUMINA ss479712408 May 04, 2012 (137)
20 ILLUMINA ss481572224 Sep 08, 2015 (146)
21 ILLUMINA ss483885900 May 04, 2012 (137)
22 1000GENOMES ss489801981 May 04, 2012 (137)
23 EXOME_CHIP ss491314694 May 04, 2012 (137)
24 CLINSEQ_SNP ss491778055 May 04, 2012 (137)
25 ILLUMINA ss533216904 Sep 08, 2015 (146)
26 TISHKOFF ss555302239 Apr 25, 2013 (138)
27 SSMP ss648880106 Apr 25, 2013 (138)
28 NHLBI-ESP ss712394737 Apr 25, 2013 (138)
29 ILLUMINA ss779481301 Sep 08, 2015 (146)
30 ILLUMINA ss780770056 Sep 08, 2015 (146)
31 ILLUMINA ss781049766 Sep 08, 2015 (146)
32 ILLUMINA ss783449637 Sep 08, 2015 (146)
33 ILLUMINA ss834951336 Sep 08, 2015 (146)
34 JMKIDD_LAB ss974440901 Aug 21, 2014 (142)
35 EVA-GONL ss976407213 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1067434579 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1068798641 Aug 21, 2014 (142)
38 1000GENOMES ss1295610959 Aug 21, 2014 (142)
39 HAMMER_LAB ss1397280328 Sep 08, 2015 (146)
40 DDI ss1428454569 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1578705685 Apr 01, 2015 (144)
42 EVA_FINRISK ss1584016680 Apr 01, 2015 (144)
43 EVA_DECODE ss1585807654 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1602646126 Apr 01, 2015 (144)
45 EVA_UK10K_TWINSUK ss1645640159 Apr 01, 2015 (144)
46 EVA_EXAC ss1686167338 Apr 01, 2015 (144)
47 EVA_MGP ss1710952426 Apr 01, 2015 (144)
48 ILLUMINA ss1752306579 Sep 08, 2015 (146)
49 HAMMER_LAB ss1796129020 Sep 08, 2015 (146)
50 ILLUMINA ss1917745469 Feb 12, 2016 (147)
51 WEILL_CORNELL_DGM ss1919635532 Feb 12, 2016 (147)
52 ILLUMINA ss1946030592 Feb 12, 2016 (147)
53 ILLUMINA ss1958381462 Feb 12, 2016 (147)
54 JJLAB ss2020344563 Sep 14, 2016 (149)
55 USC_VALOUEV ss2148384694 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2226907473 Dec 20, 2016 (150)
57 ILLUMINA ss2633561073 Nov 08, 2017 (151)
58 GRF ss2702937856 Nov 08, 2017 (151)
59 GNOMAD ss2732447450 Nov 08, 2017 (151)
60 GNOMAD ss2746615071 Nov 08, 2017 (151)
61 GNOMAD ss2768916692 Nov 08, 2017 (151)
62 AFFY ss2985156774 Nov 08, 2017 (151)
63 SWEGEN ss2988857165 Nov 08, 2017 (151)
64 ILLUMINA ss3021932614 Nov 08, 2017 (151)
65 BIOINF_KMB_FNS_UNIBA ss3023936260 Nov 08, 2017 (151)
66 CSHL ss3344035848 Nov 08, 2017 (151)
67 ILLUMINA ss3627973883 Oct 11, 2018 (152)
68 ILLUMINA ss3627973884 Oct 11, 2018 (152)
69 ILLUMINA ss3631530745 Oct 11, 2018 (152)
70 ILLUMINA ss3634747666 Oct 11, 2018 (152)
71 ILLUMINA ss3636433122 Oct 11, 2018 (152)
72 ILLUMINA ss3640454970 Oct 11, 2018 (152)
73 ILLUMINA ss3644733255 Oct 11, 2018 (152)
74 OMUKHERJEE_ADBS ss3646257468 Oct 11, 2018 (152)
75 URBANLAB ss3646948870 Oct 11, 2018 (152)
76 ILLUMINA ss3652360658 Oct 11, 2018 (152)
77 ILLUMINA ss3653927382 Oct 11, 2018 (152)
78 EGCUT_WGS ss3656806237 Jul 12, 2019 (153)
79 EVA_DECODE ss3703102269 Jul 12, 2019 (153)
80 ILLUMINA ss3725750173 Jul 12, 2019 (153)
81 ACPOP ss3728084967 Jul 12, 2019 (153)
82 ILLUMINA ss3744471084 Jul 12, 2019 (153)
83 ILLUMINA ss3745047643 Jul 12, 2019 (153)
84 EVA ss3756257965 Jul 12, 2019 (153)
85 PAGE_CC ss3770890326 Jul 12, 2019 (153)
86 ILLUMINA ss3772544589 Jul 12, 2019 (153)
87 KHV_HUMAN_GENOMES ss3800646148 Jul 12, 2019 (153)
88 EVA ss3823739447 Apr 25, 2020 (154)
89 EVA ss3825593495 Apr 25, 2020 (154)
90 EVA ss3826778030 Apr 25, 2020 (154)
91 EVA ss3836793806 Apr 25, 2020 (154)
92 EVA ss3842207172 Apr 25, 2020 (154)
93 SGDP_PRJ ss3851426654 Apr 25, 2020 (154)
94 KRGDB ss3896796198 Apr 25, 2020 (154)
95 KOGIC ss3946963712 Apr 25, 2020 (154)
96 FSA-LAB ss3984166992 Apr 25, 2021 (155)
97 FSA-LAB ss3984166993 Apr 25, 2021 (155)
98 EVA ss3984476284 Apr 25, 2021 (155)
99 EVA ss3986168816 Apr 25, 2021 (155)
100 TOPMED ss4491745395 Apr 25, 2021 (155)
101 TOMMO_GENOMICS ss5149540610 Apr 25, 2021 (155)
102 EVA ss5236967817 Apr 25, 2021 (155)
103 EVA ss5237167764 Apr 25, 2021 (155)
104 EVA ss5237634978 Oct 17, 2022 (156)
105 1000G_HIGH_COVERAGE ss5246650966 Oct 17, 2022 (156)
106 TRAN_CS_UWATERLOO ss5314400162 Oct 17, 2022 (156)
107 EVA ss5314703244 Oct 17, 2022 (156)
108 EVA ss5326319828 Oct 17, 2022 (156)
109 HUGCELL_USP ss5446993410 Oct 17, 2022 (156)
110 EVA ss5506271886 Oct 17, 2022 (156)
111 1000G_HIGH_COVERAGE ss5521156016 Oct 17, 2022 (156)
112 EVA ss5623919495 Oct 17, 2022 (156)
113 EVA ss5624096301 Oct 17, 2022 (156)
114 SANFORD_IMAGENETICS ss5627942898 Oct 17, 2022 (156)
115 TOMMO_GENOMICS ss5677625668 Oct 17, 2022 (156)
116 EVA ss5800048073 Oct 17, 2022 (156)
117 EVA ss5800092203 Oct 17, 2022 (156)
118 YY_MCH ss5801862584 Oct 17, 2022 (156)
119 EVA ss5819555681 Oct 17, 2022 (156)
120 EVA ss5847853644 Oct 17, 2022 (156)
121 EVA ss5848506432 Oct 17, 2022 (156)
122 EVA ss5852356501 Oct 17, 2022 (156)
123 EVA ss5928724948 Oct 17, 2022 (156)
124 EVA ss5954127335 Oct 17, 2022 (156)
125 EVA ss5980032369 Oct 17, 2022 (156)
126 1000Genomes NC_000002.11 - 1168781 Oct 11, 2018 (152)
127 1000Genomes_30x NC_000002.12 - 1173095 Oct 17, 2022 (156)
128 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 1168781 Oct 11, 2018 (152)
129 Genome-wide autozygosity in Daghestan NC_000002.10 - 1158781 Apr 25, 2020 (154)
130 Genetic variation in the Estonian population NC_000002.11 - 1168781 Oct 11, 2018 (152)
131 ExAC NC_000002.11 - 1168781 Oct 11, 2018 (152)
132 FINRISK NC_000002.11 - 1168781 Apr 25, 2020 (154)
133 The Danish reference pan genome NC_000002.11 - 1168781 Apr 25, 2020 (154)
134 gnomAD - Genomes NC_000002.12 - 1173095 Apr 25, 2021 (155)
135 gnomAD - Exomes NC_000002.11 - 1168781 Jul 12, 2019 (153)
136 GO Exome Sequencing Project NC_000002.11 - 1168781 Oct 11, 2018 (152)
137 Genome of the Netherlands Release 5 NC_000002.11 - 1168781 Apr 25, 2020 (154)
138 KOREAN population from KRGDB NC_000002.11 - 1168781 Apr 25, 2020 (154)
139 Korean Genome Project NC_000002.12 - 1173095 Apr 25, 2020 (154)
140 Medical Genome Project healthy controls from Spanish population NC_000002.11 - 1168781 Apr 25, 2020 (154)
141 Northern Sweden NC_000002.11 - 1168781 Jul 12, 2019 (153)
142 The PAGE Study NC_000002.12 - 1173095 Jul 12, 2019 (153)
143 CNV burdens in cranial meningiomas NC_000002.11 - 1168781 Apr 25, 2021 (155)
144 Qatari NC_000002.11 - 1168781 Apr 25, 2020 (154)
145 SGDP_PRJ NC_000002.11 - 1168781 Apr 25, 2020 (154)
146 Siberian NC_000002.11 - 1168781 Apr 25, 2020 (154)
147 8.3KJPN NC_000002.11 - 1168781 Apr 25, 2021 (155)
148 14KJPN NC_000002.12 - 1173095 Oct 17, 2022 (156)
149 TopMed NC_000002.12 - 1173095 Apr 25, 2021 (155)
150 UK 10K study - Twins NC_000002.11 - 1168781 Oct 11, 2018 (152)
151 A Vietnamese Genetic Variation Database NC_000002.11 - 1168781 Jul 12, 2019 (153)
152 ALFA NC_000002.12 - 1173095 Apr 25, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss35250453 NC_000002.9:1158780:C:A NC_000002.12:1173094:C:A (self)
230559, ss91027246, ss112156439, ss117559411, ss162996303, ss199938413, ss276321104, ss292252555, ss483885900, ss491778055, ss1397280328, ss1585807654 NC_000002.10:1158780:C:A NC_000002.12:1173094:C:A (self)
6502190, 3598096, 2544485, 6026894, 13141, 4885391, 1487331, 197945, 1582159, 3973592, 69178, 1369832, 25608, 1677462, 3443634, 901048, 7509917, 3598096, 785673, ss219019687, ss231005010, ss238597910, ss479712408, ss481572224, ss489801981, ss491314694, ss533216904, ss555302239, ss648880106, ss712394737, ss779481301, ss780770056, ss781049766, ss783449637, ss834951336, ss974440901, ss976407213, ss1067434579, ss1068798641, ss1295610959, ss1428454569, ss1578705685, ss1584016680, ss1602646126, ss1645640159, ss1686167338, ss1710952426, ss1752306579, ss1796129020, ss1917745469, ss1919635532, ss1946030592, ss1958381462, ss2020344563, ss2148384694, ss2633561073, ss2702937856, ss2732447450, ss2746615071, ss2768916692, ss2985156774, ss2988857165, ss3021932614, ss3344035848, ss3627973883, ss3627973884, ss3631530745, ss3634747666, ss3636433122, ss3640454970, ss3644733255, ss3646257468, ss3652360658, ss3653927382, ss3656806237, ss3728084967, ss3744471084, ss3745047643, ss3756257965, ss3772544589, ss3823739447, ss3825593495, ss3826778030, ss3836793806, ss3851426654, ss3896796198, ss3984166992, ss3984166993, ss3984476284, ss3986168816, ss5149540610, ss5314703244, ss5326319828, ss5506271886, ss5623919495, ss5624096301, ss5627942898, ss5800048073, ss5800092203, ss5819555681, ss5847853644, ss5848506432, ss5954127335, ss5980032369 NC_000002.11:1168780:C:A NC_000002.12:1173094:C:A (self)
8681951, 46403004, 3341713, 111795, 11462772, 295568274, 679711968, ss2226907473, ss3023936260, ss3646948870, ss3703102269, ss3725750173, ss3770890326, ss3800646148, ss3842207172, ss3946963712, ss4491745395, ss5236967817, ss5237167764, ss5237634978, ss5246650966, ss5314400162, ss5446993410, ss5521156016, ss5677625668, ss5801862584, ss5852356501, ss5928724948 NC_000002.12:1173094:C:A NC_000002.12:1173094:C:A (self)
ss44297355, ss48416497, ss97006237, ss120035917, ss132813319, ss138375516, ss160589446 NT_022221.13:1158780:C:A NC_000002.12:1173094:C:A (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 rs28505970

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.post761+d5e8e07