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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.

rs229526

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:37185382 (GRCh38.p13) 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>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.217201 (57491/264690, TOPMED)
C=0.221796 (31071/140088, GnomAD)
C=0.19728 (15506/78598, PAGE_STUDY) (+ 22 more)
C=0.21586 (11354/52598, ALFA)
C=0.08067 (1352/16760, 8.3KJPN)
C=0.23743 (3088/13006, GO-ESP)
C=0.1891 (947/5008, 1000G)
C=0.1661 (744/4480, Estonian)
C=0.2314 (892/3854, ALSPAC)
C=0.2233 (828/3708, TWINSUK)
C=0.0854 (250/2928, KOREAN)
C=0.1783 (337/1890, HapMap)
C=0.0857 (157/1832, Korea1K)
C=0.226 (226/998, GoNL)
C=0.108 (85/784, PRJEB37584)
C=0.091 (56/615, Vietnamese)
C=0.197 (118/600, NorthernSweden)
C=0.185 (99/534, MGP)
C=0.172 (52/302, FINRISK)
C=0.185 (40/216, Qatari)
G=0.432 (57/132, SGDP_PRJ)
C=0.33 (18/54, Ancient Sardinia)
C=0.20 (8/40, GENOME_DK)
G=0.50 (7/14, Siberian)
C=0.50 (7/14, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
C1QTNF6 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 22 NC_000022.11:g.37185382G>C
GRCh38.p13 chr 22 NC_000022.11:g.37185382G>T
GRCh37.p13 chr 22 NC_000022.10:g.37581422G>C
GRCh37.p13 chr 22 NC_000022.10:g.37581422G>T
Gene: C1QTNF6, C1q and TNF related 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
C1QTNF6 transcript variant 3 NM_001365878.1:c.68C>G P [CCT] > R [CGT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform 2 precursor NP_001352807.1:p.Pro23Arg P (Pro) > R (Arg) Missense Variant
C1QTNF6 transcript variant 3 NM_001365878.1:c.68C>A P [CCT] > H [CAT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform 2 precursor NP_001352807.1:p.Pro23His P (Pro) > H (His) Missense Variant
C1QTNF6 transcript variant 1 NM_031910.4:c.125C>G P [CCT] > R [CGT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor NP_114116.3:p.Pro42Arg P (Pro) > R (Arg) Missense Variant
C1QTNF6 transcript variant 1 NM_031910.4:c.125C>A P [CCT] > H [CAT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor NP_114116.3:p.Pro42His P (Pro) > H (His) Missense Variant
C1QTNF6 transcript variant 2 NM_182486.2:c.125C>G P [CCT] > R [CGT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor NP_872292.1:p.Pro42Arg P (Pro) > R (Arg) Missense Variant
C1QTNF6 transcript variant 2 NM_182486.2:c.125C>A P [CCT] > H [CAT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor NP_872292.1:p.Pro42His P (Pro) > H (His) Missense Variant
C1QTNF6 transcript variant X4 XM_017028569.1:c.125C>G P [CCT] > R [CGT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_016884058.1:p.Pro42Arg P (Pro) > R (Arg) Missense Variant
C1QTNF6 transcript variant X4 XM_017028569.1:c.125C>A P [CCT] > H [CAT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_016884058.1:p.Pro42His P (Pro) > H (His) Missense Variant
C1QTNF6 transcript variant X1 XM_024452150.1:c.125C>G P [CCT] > R [CGT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_024307918.1:p.Pro42Arg P (Pro) > R (Arg) Missense Variant
C1QTNF6 transcript variant X1 XM_024452150.1:c.125C>A P [CCT] > H [CAT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_024307918.1:p.Pro42His P (Pro) > H (His) Missense Variant
C1QTNF6 transcript variant X2 XM_024452151.1:c.125C>G P [CCT] > R [CGT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_024307919.1:p.Pro42Arg P (Pro) > R (Arg) Missense Variant
C1QTNF6 transcript variant X2 XM_024452151.1:c.125C>A P [CCT] > H [CAT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_024307919.1:p.Pro42His P (Pro) > H (His) Missense Variant
C1QTNF6 transcript variant X3 XM_024452152.1:c.125C>G P [CCT] > R [CGT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_024307920.1:p.Pro42Arg P (Pro) > R (Arg) Missense Variant
C1QTNF6 transcript variant X3 XM_024452152.1:c.125C>A P [CCT] > H [CAT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_024307920.1:p.Pro42His P (Pro) > H (His) Missense Variant
C1QTNF6 transcript variant X5 XM_024452153.1:c.125C>G P [CCT] > R [CGT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_024307921.1:p.Pro42Arg P (Pro) > R (Arg) Missense Variant
C1QTNF6 transcript variant X5 XM_024452153.1:c.125C>A P [CCT] > H [CAT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_024307921.1:p.Pro42His P (Pro) > H (His) Missense Variant
C1QTNF6 transcript variant X6 XM_024452154.1:c.125C>G P [CCT] > R [CGT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_024307922.1:p.Pro42Arg P (Pro) > R (Arg) Missense Variant
C1QTNF6 transcript variant X6 XM_024452154.1:c.125C>A P [CCT] > H [CAT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_024307922.1:p.Pro42His P (Pro) > H (His) Missense Variant
C1QTNF6 transcript variant X7 XM_011529857.2:c.68C>G P [CCT] > R [CGT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X2 XP_011528159.1:p.Pro23Arg P (Pro) > R (Arg) Missense Variant
C1QTNF6 transcript variant X7 XM_011529857.2:c.68C>A P [CCT] > H [CAT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X2 XP_011528159.1:p.Pro23His P (Pro) > H (His) Missense Variant
C1QTNF6 transcript variant X8 XM_024452155.1:c.68C>G P [CCT] > R [CGT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X2 XP_024307923.1:p.Pro23Arg P (Pro) > R (Arg) Missense Variant
C1QTNF6 transcript variant X8 XM_024452155.1:c.68C>A P [CCT] > H [CAT] Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X2 XP_024307923.1:p.Pro23His P (Pro) > H (His) 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 52598 G=0.78414 C=0.21586
European Sub 40534 G=0.78603 C=0.21397
African Sub 3574 G=0.7317 C=0.2683
African Others Sub 122 G=0.721 C=0.279
African American Sub 3452 G=0.7320 C=0.2680
Asian Sub 168 G=0.893 C=0.107
East Asian Sub 112 G=0.911 C=0.089
Other Asian Sub 56 G=0.86 C=0.14
Latin American 1 Sub 492 G=0.789 C=0.211
Latin American 2 Sub 626 G=0.872 C=0.128
South Asian Sub 98 G=0.79 C=0.21
Other Sub 7106 G=0.7891 C=0.2109


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 G=0.782799 C=0.217201
gnomAD - Genomes Global Study-wide 140088 G=0.778204 C=0.221796
gnomAD - Genomes European Sub 75856 G=0.78516 C=0.21484
gnomAD - Genomes African Sub 41978 G=0.72838 C=0.27162
gnomAD - Genomes American Sub 13650 G=0.85766 C=0.14234
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.8032 C=0.1968
gnomAD - Genomes East Asian Sub 3130 G=0.8946 C=0.1054
gnomAD - Genomes Other Sub 2150 G=0.7930 C=0.2070
The PAGE Study Global Study-wide 78598 G=0.80272 C=0.19728
The PAGE Study AfricanAmerican Sub 32476 G=0.73131 C=0.26869
The PAGE Study Mexican Sub 10788 G=0.88691 C=0.11309
The PAGE Study Asian Sub 8310 G=0.9089 C=0.0911
The PAGE Study PuertoRican Sub 7904 G=0.7953 C=0.2047
The PAGE Study NativeHawaiian Sub 4526 G=0.8849 C=0.1151
The PAGE Study Cuban Sub 4228 G=0.7893 C=0.2107
The PAGE Study Dominican Sub 3824 G=0.7937 C=0.2063
The PAGE Study CentralAmerican Sub 2448 G=0.8775 C=0.1225
The PAGE Study SouthAmerican Sub 1978 G=0.8766 C=0.1234
The PAGE Study NativeAmerican Sub 1260 G=0.7857 C=0.2143
The PAGE Study SouthAsian Sub 856 G=0.801 C=0.199
8.3KJPN JAPANESE Study-wide 16760 G=0.91933 C=0.08067
GO Exome Sequencing Project Global Study-wide 13006 G=0.76257 C=0.23743
GO Exome Sequencing Project European American Sub 8600 G=0.7769 C=0.2231
GO Exome Sequencing Project African American Sub 4406 G=0.7347 C=0.2653
1000Genomes Global Study-wide 5008 G=0.8109 C=0.1891
1000Genomes African Sub 1322 G=0.7231 C=0.2769
1000Genomes East Asian Sub 1008 G=0.8929 C=0.1071
1000Genomes Europe Sub 1006 G=0.7932 C=0.2068
1000Genomes South Asian Sub 978 G=0.826 C=0.174
1000Genomes American Sub 694 G=0.863 C=0.137
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8339 C=0.1661
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7686 C=0.2314
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7767 C=0.2233
KOREAN population from KRGDB KOREAN Study-wide 2928 G=0.9146 C=0.0854
HapMap Global Study-wide 1890 G=0.8217 C=0.1783
HapMap American Sub 770 G=0.838 C=0.162
HapMap African Sub 692 G=0.766 C=0.234
HapMap Asian Sub 254 G=0.925 C=0.075
HapMap Europe Sub 174 G=0.822 C=0.178
Korean Genome Project KOREAN Study-wide 1832 G=0.9143 C=0.0857
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.774 C=0.226
CNV burdens in cranial meningiomas Global Study-wide 784 G=0.892 C=0.108
CNV burdens in cranial meningiomas CRM Sub 784 G=0.892 C=0.108
A Vietnamese Genetic Variation Database Global Study-wide 615 G=0.909 C=0.091
Northern Sweden ACPOP Study-wide 600 G=0.803 C=0.197
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.815 C=0.185
FINRISK Finnish from FINRISK project Study-wide 302 G=0.828 C=0.172
Qatari Global Study-wide 216 G=0.815 C=0.185
SGDP_PRJ Global Study-wide 132 G=0.432 C=0.568
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 54 G=0.67 C=0.33
The Danish reference pan genome Danish Study-wide 40 G=0.80 C=0.20
Siberian Global Study-wide 14 G=0.50 C=0.50
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 G= C T
GRCh38.p13 chr 22 NC_000022.11:g.37185382= NC_000022.11:g.37185382G>C NC_000022.11:g.37185382G>T
GRCh37.p13 chr 22 NC_000022.10:g.37581422= NC_000022.10:g.37581422G>C NC_000022.10:g.37581422G>T
C1QTNF6 transcript variant 1 NM_031910.4:c.125= NM_031910.4:c.125C>G NM_031910.4:c.125C>A
C1QTNF6 transcript variant 1 NM_031910.3:c.125= NM_031910.3:c.125C>G NM_031910.3:c.125C>A
C1QTNF6 transcript variant X7 XM_011529857.2:c.68= XM_011529857.2:c.68C>G XM_011529857.2:c.68C>A
C1QTNF6 transcript variant 2 NM_182486.2:c.125= NM_182486.2:c.125C>G NM_182486.2:c.125C>A
C1QTNF6 transcript variant 2 NM_182486.1:c.125= NM_182486.1:c.125C>G NM_182486.1:c.125C>A
C1QTNF6 transcript variant X8 XM_024452155.1:c.68= XM_024452155.1:c.68C>G XM_024452155.1:c.68C>A
C1QTNF6 transcript variant X2 XM_024452151.1:c.125= XM_024452151.1:c.125C>G XM_024452151.1:c.125C>A
C1QTNF6 transcript variant X3 XM_024452152.1:c.125= XM_024452152.1:c.125C>G XM_024452152.1:c.125C>A
C1QTNF6 transcript variant X4 XM_017028569.1:c.125= XM_017028569.1:c.125C>G XM_017028569.1:c.125C>A
C1QTNF6 transcript variant X6 XM_024452154.1:c.125= XM_024452154.1:c.125C>G XM_024452154.1:c.125C>A
C1QTNF6 transcript variant X1 XM_024452150.1:c.125= XM_024452150.1:c.125C>G XM_024452150.1:c.125C>A
C1QTNF6 transcript variant 3 NM_001365878.1:c.68= NM_001365878.1:c.68C>G NM_001365878.1:c.68C>A
C1QTNF6 transcript variant X5 XM_024452153.1:c.125= XM_024452153.1:c.125C>G XM_024452153.1:c.125C>A
complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor NP_114116.3:p.Pro42= NP_114116.3:p.Pro42Arg NP_114116.3:p.Pro42His
complement C1q tumor necrosis factor-related protein 6 isoform X2 XP_011528159.1:p.Pro23= XP_011528159.1:p.Pro23Arg XP_011528159.1:p.Pro23His
complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor NP_872292.1:p.Pro42= NP_872292.1:p.Pro42Arg NP_872292.1:p.Pro42His
complement C1q tumor necrosis factor-related protein 6 isoform X2 XP_024307923.1:p.Pro23= XP_024307923.1:p.Pro23Arg XP_024307923.1:p.Pro23His
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_024307919.1:p.Pro42= XP_024307919.1:p.Pro42Arg XP_024307919.1:p.Pro42His
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_024307920.1:p.Pro42= XP_024307920.1:p.Pro42Arg XP_024307920.1:p.Pro42His
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_016884058.1:p.Pro42= XP_016884058.1:p.Pro42Arg XP_016884058.1:p.Pro42His
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_024307922.1:p.Pro42= XP_024307922.1:p.Pro42Arg XP_024307922.1:p.Pro42His
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_024307918.1:p.Pro42= XP_024307918.1:p.Pro42Arg XP_024307918.1:p.Pro42His
complement C1q tumor necrosis factor-related protein 6 isoform 2 precursor NP_001352807.1:p.Pro23= NP_001352807.1:p.Pro23Arg NP_001352807.1:p.Pro23His
complement C1q tumor necrosis factor-related protein 6 isoform X1 XP_024307921.1:p.Pro42= XP_024307921.1:p.Pro42Arg XP_024307921.1:p.Pro42His
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#.

123 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss297052 Jul 12, 2000 (79)
2 KWOK ss1244496 Oct 04, 2000 (86)
3 KWOK ss2048851 Oct 18, 2000 (87)
4 SC_JCM ss3566117 Sep 28, 2001 (100)
5 SC_SNP ss8296277 Apr 21, 2003 (114)
6 PERLEGEN ss24601542 Sep 20, 2004 (123)
7 APPLERA_GI ss48408108 Mar 15, 2006 (126)
8 ILLUMINA ss65731176 Oct 14, 2006 (127)
9 PERLEGEN ss69272703 May 17, 2007 (127)
10 AFFY ss74809253 Aug 16, 2007 (128)
11 ILLUMINA ss74900567 Dec 06, 2007 (129)
12 AFFY ss76449405 Dec 06, 2007 (129)
13 SI_EXO ss76890365 Dec 06, 2007 (129)
14 HGSV ss85295477 Dec 15, 2007 (130)
15 KRIBB_YJKIM ss104811888 Feb 05, 2009 (130)
16 1000GENOMES ss112648036 Jan 25, 2009 (130)
17 ILLUMINA-UK ss117405744 Feb 14, 2009 (130)
18 SEATTLESEQ ss159744435 Dec 01, 2009 (131)
19 ILLUMINA ss160531769 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss167948977 Jul 04, 2010 (132)
21 ILLUMINA ss173265721 Jul 04, 2010 (132)
22 BUSHMAN ss204089917 Jul 04, 2010 (132)
23 1000GENOMES ss228683437 Jul 14, 2010 (132)
24 1000GENOMES ss238072078 Jul 15, 2010 (132)
25 1000GENOMES ss244189335 Jul 15, 2010 (132)
26 NHLBI-ESP ss342542074 May 09, 2011 (134)
27 ILLUMINA ss480516911 May 04, 2012 (137)
28 ILLUMINA ss480531112 May 04, 2012 (137)
29 ILLUMINA ss481341541 Sep 08, 2015 (146)
30 ILLUMINA ss485055821 May 04, 2012 (137)
31 1000GENOMES ss491192452 May 04, 2012 (137)
32 EXOME_CHIP ss491571360 May 04, 2012 (137)
33 CLINSEQ_SNP ss491824189 May 04, 2012 (137)
34 ILLUMINA ss536410334 Sep 08, 2015 (146)
35 TISHKOFF ss566645802 Apr 25, 2013 (138)
36 SSMP ss662575525 Apr 25, 2013 (138)
37 ILLUMINA ss778342338 Sep 08, 2015 (146)
38 ILLUMINA ss782974122 Sep 08, 2015 (146)
39 ILLUMINA ss783935437 Sep 08, 2015 (146)
40 ILLUMINA ss832230498 Sep 08, 2015 (146)
41 ILLUMINA ss833796949 Sep 08, 2015 (146)
42 JMKIDD_LAB ss974512864 Aug 21, 2014 (142)
43 EVA-GONL ss995360242 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1067606204 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1082664709 Aug 21, 2014 (142)
46 1000GENOMES ss1367196251 Aug 21, 2014 (142)
47 DDI ss1429259177 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1579756241 Apr 01, 2015 (144)
49 EVA_FINRISK ss1584127827 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1640011841 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1683005874 Apr 01, 2015 (144)
52 EVA_EXAC ss1694334481 Apr 01, 2015 (144)
53 EVA_EXAC ss1694334482 Apr 01, 2015 (144)
54 EVA_DECODE ss1699430368 Apr 01, 2015 (144)
55 EVA_MGP ss1711568958 Apr 01, 2015 (144)
56 EVA_SVP ss1713741896 Apr 01, 2015 (144)
57 ILLUMINA ss1752421237 Sep 08, 2015 (146)
58 HAMMER_LAB ss1809792664 Sep 08, 2015 (146)
59 WEILL_CORNELL_DGM ss1938926828 Feb 12, 2016 (147)
60 ILLUMINA ss1946590927 Feb 12, 2016 (147)
61 ILLUMINA ss1959980245 Feb 12, 2016 (147)
62 JJLAB ss2030235632 Sep 14, 2016 (149)
63 ILLUMINA ss2094923648 Dec 20, 2016 (150)
64 ILLUMINA ss2095123234 Dec 20, 2016 (150)
65 USC_VALOUEV ss2158854833 Dec 20, 2016 (150)
66 HUMAN_LONGEVITY ss2247394376 Dec 20, 2016 (150)
67 TOPMED ss2414358738 Dec 20, 2016 (150)
68 SYSTEMSBIOZJU ss2629615118 Nov 08, 2017 (151)
69 ILLUMINA ss2633879540 Nov 08, 2017 (151)
70 GRF ss2704606834 Nov 08, 2017 (151)
71 ILLUMINA ss2710958144 Nov 08, 2017 (151)
72 GNOMAD ss2745122547 Nov 08, 2017 (151)
73 GNOMAD ss2750550202 Nov 08, 2017 (151)
74 GNOMAD ss2974470469 Nov 08, 2017 (151)
75 AFFY ss2985238834 Nov 08, 2017 (151)
76 SWEGEN ss3019317050 Nov 08, 2017 (151)
77 ILLUMINA ss3022187057 Nov 08, 2017 (151)
78 BIOINF_KMB_FNS_UNIBA ss3028955100 Nov 08, 2017 (151)
79 CSHL ss3352841873 Nov 08, 2017 (151)
80 TOPMED ss3377373989 Nov 08, 2017 (151)
81 ILLUMINA ss3625802928 Oct 12, 2018 (152)
82 ILLUMINA ss3628536517 Oct 12, 2018 (152)
83 ILLUMINA ss3631830766 Oct 12, 2018 (152)
84 ILLUMINA ss3633273623 Oct 12, 2018 (152)
85 ILLUMINA ss3633989421 Oct 12, 2018 (152)
86 ILLUMINA ss3634868309 Oct 12, 2018 (152)
87 ILLUMINA ss3635673859 Oct 12, 2018 (152)
88 ILLUMINA ss3636564088 Oct 12, 2018 (152)
89 ILLUMINA ss3637426100 Oct 12, 2018 (152)
90 ILLUMINA ss3638383321 Oct 12, 2018 (152)
91 ILLUMINA ss3640575613 Oct 12, 2018 (152)
92 ILLUMINA ss3643342951 Oct 12, 2018 (152)
93 ILLUMINA ss3644800608 Oct 12, 2018 (152)
94 OMUKHERJEE_ADBS ss3646567281 Oct 12, 2018 (152)
95 ILLUMINA ss3652650645 Oct 12, 2018 (152)
96 ILLUMINA ss3652650646 Oct 12, 2018 (152)
97 ILLUMINA ss3654006930 Oct 12, 2018 (152)
98 EGCUT_WGS ss3685812591 Jul 13, 2019 (153)
99 EVA_DECODE ss3708217509 Jul 13, 2019 (153)
100 ILLUMINA ss3725969435 Jul 13, 2019 (153)
101 ACPOP ss3743941788 Jul 13, 2019 (153)
102 ILLUMINA ss3744206986 Jul 13, 2019 (153)
103 ILLUMINA ss3744502888 Jul 13, 2019 (153)
104 ILLUMINA ss3745168157 Jul 13, 2019 (153)
105 EVA ss3759393425 Jul 13, 2019 (153)
106 PAGE_CC ss3772092089 Jul 13, 2019 (153)
107 ILLUMINA ss3772664055 Jul 13, 2019 (153)
108 KHV_HUMAN_GENOMES ss3822556107 Jul 13, 2019 (153)
109 EVA ss3825445162 Apr 27, 2020 (154)
110 EVA ss3825970667 Apr 27, 2020 (154)
111 EVA ss3835996587 Apr 27, 2020 (154)
112 EVA ss3841626554 Apr 27, 2020 (154)
113 EVA ss3847141633 Apr 27, 2020 (154)
114 SGDP_PRJ ss3890563656 Apr 27, 2020 (154)
115 KRGDB ss3940962347 Apr 27, 2020 (154)
116 KOGIC ss3983655815 Apr 27, 2020 (154)
117 FSA-LAB ss3984235492 Apr 26, 2021 (155)
118 EVA ss3984760648 Apr 26, 2021 (155)
119 EVA ss3985918486 Apr 26, 2021 (155)
120 EVA ss3986862722 Apr 26, 2021 (155)
121 TOPMED ss5109485935 Apr 26, 2021 (155)
122 TOMMO_GENOMICS ss5232663151 Apr 26, 2021 (155)
123 EVA ss5236991196 Apr 26, 2021 (155)
124 1000Genomes NC_000022.10 - 37581422 Oct 12, 2018 (152)
125 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 37581422 Oct 12, 2018 (152)
126 Genetic variation in the Estonian population NC_000022.10 - 37581422 Oct 12, 2018 (152)
127 ExAC

Submission ignored due to conflicting rows:
Row 5914465 (NC_000022.10:37581421:G:G 95855/119798, NC_000022.10:37581421:G:C 23943/119798)
Row 5914466 (NC_000022.10:37581421:G:G 119797/119798, NC_000022.10:37581421:G:T 1/119798)

- Oct 12, 2018 (152)
128 ExAC

Submission ignored due to conflicting rows:
Row 5914465 (NC_000022.10:37581421:G:G 95855/119798, NC_000022.10:37581421:G:C 23943/119798)
Row 5914466 (NC_000022.10:37581421:G:G 119797/119798, NC_000022.10:37581421:G:T 1/119798)

- Oct 12, 2018 (152)
129 FINRISK NC_000022.10 - 37581422 Apr 27, 2020 (154)
130 The Danish reference pan genome NC_000022.10 - 37581422 Apr 27, 2020 (154)
131 gnomAD - Genomes NC_000022.11 - 37185382 Apr 26, 2021 (155)
132 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 14454367 (NC_000022.10:37581421:G:G 202119/250112, NC_000022.10:37581421:G:C 47993/250112)
Row 14454368 (NC_000022.10:37581421:G:G 250111/250112, NC_000022.10:37581421:G:T 1/250112)

- Jul 13, 2019 (153)
133 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 14454367 (NC_000022.10:37581421:G:G 202119/250112, NC_000022.10:37581421:G:C 47993/250112)
Row 14454368 (NC_000022.10:37581421:G:G 250111/250112, NC_000022.10:37581421:G:T 1/250112)

- Jul 13, 2019 (153)
134 GO Exome Sequencing Project NC_000022.10 - 37581422 Oct 12, 2018 (152)
135 Genome of the Netherlands Release 5 NC_000022.10 - 37581422 Apr 27, 2020 (154)
136 HapMap NC_000022.11 - 37185382 Apr 27, 2020 (154)
137 KOREAN population from KRGDB NC_000022.10 - 37581422 Apr 27, 2020 (154)
138 Korean Genome Project NC_000022.11 - 37185382 Apr 27, 2020 (154)
139 Medical Genome Project healthy controls from Spanish population NC_000022.10 - 37581422 Apr 27, 2020 (154)
140 Northern Sweden NC_000022.10 - 37581422 Jul 13, 2019 (153)
141 The PAGE Study NC_000022.11 - 37185382 Jul 13, 2019 (153)
142 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000022.10 - 37581422 Apr 26, 2021 (155)
143 CNV burdens in cranial meningiomas NC_000022.10 - 37581422 Apr 26, 2021 (155)
144 Qatari NC_000022.10 - 37581422 Apr 27, 2020 (154)
145 SGDP_PRJ NC_000022.10 - 37581422 Apr 27, 2020 (154)
146 Siberian NC_000022.10 - 37581422 Apr 27, 2020 (154)
147 8.3KJPN NC_000022.10 - 37581422 Apr 26, 2021 (155)
148 TopMed NC_000022.11 - 37185382 Apr 26, 2021 (155)
149 UK 10K study - Twins NC_000022.10 - 37581422 Oct 12, 2018 (152)
150 A Vietnamese Genetic Variation Database NC_000022.10 - 37581422 Jul 13, 2019 (153)
151 ALFA NC_000022.11 - 37185382 Apr 26, 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)
rs17812735 Oct 07, 2004 (123)
rs52834593 Sep 21, 2007 (128)
rs59914011 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85295477 NC_000022.8:35905921:G:C NC_000022.11:37185381:G:C (self)
ss76449405, ss112648036, ss117405744, ss167948977, ss204089917, ss480516911, ss491824189, ss1699430368, ss1713741896, ss2094923648, ss3643342951 NC_000022.9:35911367:G:C NC_000022.11:37185381:G:C (self)
80749497, 44668071, 31550839, 124288, 5921180, 1901993, 19904472, 48139741, 684718, 17226653, 1144413, 310233, 20968750, 42580636, 11371187, 90632458, 44668071, 9854481, ss228683437, ss238072078, ss244189335, ss342542074, ss480531112, ss481341541, ss485055821, ss491192452, ss491571360, ss536410334, ss566645802, ss662575525, ss778342338, ss782974122, ss783935437, ss832230498, ss833796949, ss974512864, ss995360242, ss1067606204, ss1082664709, ss1367196251, ss1429259177, ss1579756241, ss1584127827, ss1640011841, ss1683005874, ss1694334481, ss1711568958, ss1752421237, ss1809792664, ss1938926828, ss1946590927, ss1959980245, ss2030235632, ss2095123234, ss2158854833, ss2414358738, ss2629615118, ss2633879540, ss2704606834, ss2710958144, ss2745122547, ss2750550202, ss2974470469, ss2985238834, ss3019317050, ss3022187057, ss3352841873, ss3625802928, ss3628536517, ss3631830766, ss3633273623, ss3633989421, ss3634868309, ss3635673859, ss3636564088, ss3637426100, ss3638383321, ss3640575613, ss3644800608, ss3646567281, ss3652650645, ss3652650646, ss3654006930, ss3685812591, ss3743941788, ss3744206986, ss3744502888, ss3745168157, ss3759393425, ss3772664055, ss3825445162, ss3825970667, ss3835996587, ss3841626554, ss3890563656, ss3940962347, ss3984235492, ss3984760648, ss3985918486, ss3986862722, ss5232663151 NC_000022.10:37581421:G:C NC_000022.11:37185381:G:C (self)
570197845, 2257667, 40033816, 1313558, 240233990, 384594882, 6913032655, ss2247394376, ss3028955100, ss3377373989, ss3708217509, ss3725969435, ss3772092089, ss3822556107, ss3847141633, ss3983655815, ss5109485935, ss5236991196 NC_000022.11:37185381:G:C NC_000022.11:37185381:G:C (self)
ss76890365 NT_011520.11:16971936:G:C NC_000022.11:37185381:G:C (self)
ss297052, ss1244496, ss2048851, ss3566117, ss8296277, ss24601542, ss48408108, ss65731176, ss69272703, ss74809253, ss74900567, ss104811888, ss159744435, ss160531769, ss173265721 NT_011520.12:16971990:G:C NC_000022.11:37185381:G:C (self)
ss1694334482, ss2745122547 NC_000022.10:37581421:G:T NC_000022.11:37185381:G:T (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 rs229526

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.post596+ae089ad