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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.

rs11806

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:40770131 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.349102 (108799/311654, ALFA)
G=0.340591 (90151/264690, TOPMED)
G=0.345373 (48346/139982, GnomAD) (+ 18 more)
G=0.34674 (27286/78694, PAGE_STUDY)
A=0.33598 (5631/16760, 8.3KJPN)
G=0.3894 (1950/5008, 1000G)
G=0.3462 (1551/4480, Estonian)
G=0.3560 (1372/3854, ALSPAC)
G=0.3387 (1256/3708, TWINSUK)
A=0.3038 (890/2930, KOREAN)
G=0.3931 (743/1890, HapMap)
A=0.3150 (577/1832, Korea1K)
G=0.3097 (350/1130, Daghestan)
G=0.327 (326/998, GoNL)
A=0.285 (218/764, PRJEB37584)
G=0.333 (200/600, NorthernSweden)
A=0.326 (109/334, SGDP_PRJ)
G=0.278 (60/216, Qatari)
A=0.313 (67/214, Vietnamese)
G=0.38 (15/40, GENOME_DK)
A=0.37 (11/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC25A17 : Non Coding Transcript 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.40770131A>C
GRCh38.p13 chr 22 NC_000022.11:g.40770131A>G
GRCh38.p13 chr 22 NC_000022.11:g.40770131A>T
GRCh37.p13 chr 22 NC_000022.10:g.41166135A>C
GRCh37.p13 chr 22 NC_000022.10:g.41166135A>G
GRCh37.p13 chr 22 NC_000022.10:g.41166135A>T
Gene: SLC25A17, solute carrier family 25 member 17 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC25A17 transcript variant 1 NM_006358.4:c.*703= N/A 3 Prime UTR Variant
SLC25A17 transcript variant 3 NM_001282727.2:c.*703= N/A 3 Prime UTR Variant
SLC25A17 transcript variant 2 NM_001282726.2:c.*703= N/A 3 Prime UTR Variant
SLC25A17 transcript variant 4 NR_104235.2:n.2037T>G N/A Non Coding Transcript Variant
SLC25A17 transcript variant 4 NR_104235.2:n.2037T>C N/A Non Coding Transcript Variant
SLC25A17 transcript variant 4 NR_104235.2:n.2037T>A N/A Non Coding Transcript Variant
SLC25A17 transcript variant 6 NR_104237.2:n.1615T>G N/A Non Coding Transcript Variant
SLC25A17 transcript variant 6 NR_104237.2:n.1615T>C N/A Non Coding Transcript Variant
SLC25A17 transcript variant 6 NR_104237.2:n.1615T>A N/A Non Coding Transcript Variant
SLC25A17 transcript variant 5 NR_104236.2:n.1573T>G N/A Non Coding Transcript Variant
SLC25A17 transcript variant 5 NR_104236.2:n.1573T>C N/A Non Coding Transcript Variant
SLC25A17 transcript variant 5 NR_104236.2:n.1573T>A N/A Non Coding Transcript Variant
SLC25A17 transcript variant 7 NR_104238.2:n.1445T>G N/A Non Coding Transcript Variant
SLC25A17 transcript variant 7 NR_104238.2:n.1445T>C N/A Non Coding Transcript Variant
SLC25A17 transcript variant 7 NR_104238.2:n.1445T>A N/A Non Coding Transcript 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 311654 A=0.650898 G=0.349102
European Sub 273802 A=0.649287 G=0.350713
African Sub 11020 A=0.66488 G=0.33512
African Others Sub 400 A=0.682 G=0.318
African American Sub 10620 A=0.66422 G=0.33578
Asian Sub 3940 A=0.3718 G=0.6282
East Asian Sub 3196 A=0.3364 G=0.6636
Other Asian Sub 744 A=0.524 G=0.476
Latin American 1 Sub 1134 A=0.6614 G=0.3386
Latin American 2 Sub 7196 A=0.7884 G=0.2116
South Asian Sub 5226 A=0.6864 G=0.3136
Other Sub 9336 A=0.6723 G=0.3277


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
Allele Frequency Aggregator Total Global 311654 A=0.650898 G=0.349102
Allele Frequency Aggregator European Sub 273802 A=0.649287 G=0.350713
Allele Frequency Aggregator African Sub 11020 A=0.66488 G=0.33512
Allele Frequency Aggregator Other Sub 9336 A=0.6723 G=0.3277
Allele Frequency Aggregator Latin American 2 Sub 7196 A=0.7884 G=0.2116
Allele Frequency Aggregator South Asian Sub 5226 A=0.6864 G=0.3136
Allele Frequency Aggregator Asian Sub 3940 A=0.3718 G=0.6282
Allele Frequency Aggregator Latin American 1 Sub 1134 A=0.6614 G=0.3386
TopMed Global Study-wide 264690 A=0.659409 G=0.340591
gnomAD - Genomes Global Study-wide 139982 A=0.654627 G=0.345373
gnomAD - Genomes European Sub 75842 A=0.64723 G=0.35277
gnomAD - Genomes African Sub 41926 A=0.66407 G=0.33593
gnomAD - Genomes American Sub 13626 A=0.73712 G=0.26288
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.6679 G=0.3321
gnomAD - Genomes East Asian Sub 3114 A=0.3375 G=0.6625
gnomAD - Genomes Other Sub 2150 A=0.6474 G=0.3526
The PAGE Study Global Study-wide 78694 A=0.65326 G=0.34674
The PAGE Study AfricanAmerican Sub 32512 A=0.66495 G=0.33505
The PAGE Study Mexican Sub 10810 A=0.78807 G=0.21193
The PAGE Study Asian Sub 8316 A=0.3247 G=0.6753
The PAGE Study PuertoRican Sub 7916 A=0.7135 G=0.2865
The PAGE Study NativeHawaiian Sub 4534 A=0.6398 G=0.3602
The PAGE Study Cuban Sub 4230 A=0.6409 G=0.3591
The PAGE Study Dominican Sub 3828 A=0.6429 G=0.3571
The PAGE Study CentralAmerican Sub 2450 A=0.7763 G=0.2237
The PAGE Study SouthAmerican Sub 1982 A=0.7639 G=0.2361
The PAGE Study NativeAmerican Sub 1260 A=0.7008 G=0.2992
The PAGE Study SouthAsian Sub 856 A=0.643 G=0.357
8.3KJPN JAPANESE Study-wide 16760 A=0.33598 G=0.66402
1000Genomes Global Study-wide 5008 A=0.6106 G=0.3894
1000Genomes African Sub 1322 A=0.6505 G=0.3495
1000Genomes East Asian Sub 1008 A=0.3185 G=0.6815
1000Genomes Europe Sub 1006 A=0.6501 G=0.3499
1000Genomes South Asian Sub 978 A=0.679 G=0.321
1000Genomes American Sub 694 A=0.805 G=0.195
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6538 G=0.3462
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6440 G=0.3560
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6613 G=0.3387
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.3038 C=0.0000, G=0.6962, T=0.0000
HapMap Global Study-wide 1890 A=0.6069 G=0.3931
HapMap American Sub 770 A=0.605 G=0.395
HapMap African Sub 692 A=0.698 G=0.302
HapMap Asian Sub 252 A=0.321 G=0.679
HapMap Europe Sub 176 A=0.665 G=0.335
Korean Genome Project KOREAN Study-wide 1832 A=0.3150 G=0.6850
Genome-wide autozygosity in Daghestan Global Study-wide 1130 A=0.6903 G=0.3097
Genome-wide autozygosity in Daghestan Daghestan Sub 624 A=0.740 G=0.260
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.681 G=0.319
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.582 G=0.418
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.583 G=0.417
Genome-wide autozygosity in Daghestan South Asian Sub 96 A=0.73 G=0.27
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.44 G=0.56
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.673 G=0.327
CNV burdens in cranial meningiomas Global Study-wide 764 A=0.285 G=0.715
CNV burdens in cranial meningiomas CRM Sub 764 A=0.285 G=0.715
Northern Sweden ACPOP Study-wide 600 A=0.667 G=0.333
SGDP_PRJ Global Study-wide 334 A=0.326 G=0.674
Qatari Global Study-wide 216 A=0.722 G=0.278
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.313 G=0.687
The Danish reference pan genome Danish Study-wide 40 A=0.62 G=0.38
Siberian Global Study-wide 30 A=0.37 G=0.63
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= C G T
GRCh38.p13 chr 22 NC_000022.11:g.40770131= NC_000022.11:g.40770131A>C NC_000022.11:g.40770131A>G NC_000022.11:g.40770131A>T
GRCh37.p13 chr 22 NC_000022.10:g.41166135= NC_000022.10:g.41166135A>C NC_000022.10:g.41166135A>G NC_000022.10:g.41166135A>T
SLC25A17 transcript variant 1 NM_006358.4:c.*703= NM_006358.4:c.*703T>G NM_006358.4:c.*703T>C NM_006358.4:c.*703T>A
SLC25A17 transcript variant 1 NM_006358.3:c.*703= NM_006358.3:c.*703T>G NM_006358.3:c.*703T>C NM_006358.3:c.*703T>A
SLC25A17 transcript NM_006358.2:c.*703= NM_006358.2:c.*703T>G NM_006358.2:c.*703T>C NM_006358.2:c.*703T>A
SLC25A17 transcript variant 4 NR_104235.2:n.2037= NR_104235.2:n.2037T>G NR_104235.2:n.2037T>C NR_104235.2:n.2037T>A
SLC25A17 transcript variant 4 NR_104235.1:n.2090= NR_104235.1:n.2090T>G NR_104235.1:n.2090T>C NR_104235.1:n.2090T>A
SLC25A17 transcript variant 2 NM_001282726.2:c.*703= NM_001282726.2:c.*703T>G NM_001282726.2:c.*703T>C NM_001282726.2:c.*703T>A
SLC25A17 transcript variant 2 NM_001282726.1:c.*703= NM_001282726.1:c.*703T>G NM_001282726.1:c.*703T>C NM_001282726.1:c.*703T>A
SLC25A17 transcript variant 6 NR_104237.2:n.1615= NR_104237.2:n.1615T>G NR_104237.2:n.1615T>C NR_104237.2:n.1615T>A
SLC25A17 transcript variant 6 NR_104237.1:n.1668= NR_104237.1:n.1668T>G NR_104237.1:n.1668T>C NR_104237.1:n.1668T>A
SLC25A17 transcript variant 5 NR_104236.2:n.1573= NR_104236.2:n.1573T>G NR_104236.2:n.1573T>C NR_104236.2:n.1573T>A
SLC25A17 transcript variant 5 NR_104236.1:n.1626= NR_104236.1:n.1626T>G NR_104236.1:n.1626T>C NR_104236.1:n.1626T>A
SLC25A17 transcript variant 3 NM_001282727.2:c.*703= NM_001282727.2:c.*703T>G NM_001282727.2:c.*703T>C NM_001282727.2:c.*703T>A
SLC25A17 transcript variant 3 NM_001282727.1:c.*703= NM_001282727.1:c.*703T>G NM_001282727.1:c.*703T>C NM_001282727.1:c.*703T>A
SLC25A17 transcript variant 7 NR_104238.2:n.1445= NR_104238.2:n.1445T>G NR_104238.2:n.1445T>C NR_104238.2:n.1445T>A
SLC25A17 transcript variant 7 NR_104238.1:n.1498= NR_104238.1:n.1498T>G NR_104238.1:n.1498T>C NR_104238.1:n.1498T>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#.

124 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss14046 Sep 19, 2000 (52)
2 LEE ss1521648 Oct 04, 2000 (86)
3 LEE ss4393950 May 29, 2002 (106)
4 LEE ss4413199 May 29, 2002 (106)
5 SC_SNP ss7998552 Apr 21, 2003 (114)
6 SC_SNP ss13361535 Dec 05, 2003 (119)
7 CGAP-GAI ss16263600 Feb 27, 2004 (120)
8 PERLEGEN ss23569197 Sep 20, 2004 (123)
9 ABI ss44300167 Mar 13, 2006 (126)
10 SI_EXO ss52069606 Oct 15, 2006 (127)
11 ILLUMINA ss65740653 Oct 15, 2006 (127)
12 KRIBB_YJKIM ss65824306 Nov 30, 2006 (127)
13 ILLUMINA ss74969694 Dec 06, 2007 (129)
14 KRIBB_YJKIM ss80750517 Dec 16, 2007 (130)
15 BCMHGSC_JDW ss91928898 Mar 24, 2008 (129)
16 HUMANGENOME_JCVI ss96127193 Feb 06, 2009 (130)
17 BGI ss106228325 Feb 06, 2009 (130)
18 1000GENOMES ss112665757 Jan 25, 2009 (130)
19 1000GENOMES ss114245899 Jan 25, 2009 (130)
20 ILLUMINA-UK ss117414187 Feb 14, 2009 (130)
21 KRIBB_YJKIM ss119339010 Dec 01, 2009 (131)
22 ENSEMBL ss138359293 Dec 01, 2009 (131)
23 ENSEMBL ss143200204 Dec 01, 2009 (131)
24 ILLUMINA ss153067409 Dec 01, 2009 (131)
25 GMI ss157208217 Dec 01, 2009 (131)
26 ILLUMINA ss159190822 Dec 01, 2009 (131)
27 ILLUMINA ss160006224 Dec 01, 2009 (131)
28 COMPLETE_GENOMICS ss169333951 Jul 04, 2010 (132)
29 ILLUMINA ss171596709 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss172003625 Jul 04, 2010 (132)
31 BUSHMAN ss204097603 Jul 04, 2010 (132)
32 BCM-HGSC-SUB ss208826784 Jul 04, 2010 (132)
33 1000GENOMES ss228694970 Jul 14, 2010 (132)
34 1000GENOMES ss238079761 Jul 15, 2010 (132)
35 1000GENOMES ss244195562 Jul 15, 2010 (132)
36 GMI ss283646392 May 04, 2012 (137)
37 GMI ss287574017 Apr 25, 2013 (138)
38 PJP ss292766486 May 09, 2011 (134)
39 ILLUMINA ss479600280 May 04, 2012 (137)
40 ILLUMINA ss479605048 May 04, 2012 (137)
41 ILLUMINA ss480090637 Sep 08, 2015 (146)
42 ILLUMINA ss484598867 May 04, 2012 (137)
43 ILLUMINA ss536725990 Sep 08, 2015 (146)
44 TISHKOFF ss566661779 Apr 25, 2013 (138)
45 SSMP ss662591266 Apr 25, 2013 (138)
46 ILLUMINA ss778391877 Aug 21, 2014 (142)
47 ILLUMINA ss782746255 Sep 08, 2015 (146)
48 ILLUMINA ss783713081 Aug 21, 2014 (142)
49 ILLUMINA ss831998285 Sep 08, 2015 (146)
50 ILLUMINA ss832703302 Jul 13, 2019 (153)
51 ILLUMINA ss833846956 Aug 21, 2014 (142)
52 EVA-GONL ss995384965 Aug 21, 2014 (142)
53 JMKIDD_LAB ss1082681979 Aug 21, 2014 (142)
54 1000GENOMES ss1367299424 Aug 21, 2014 (142)
55 HAMMER_LAB ss1397786073 Sep 08, 2015 (146)
56 DDI ss1429266120 Apr 01, 2015 (144)
57 EVA_GENOME_DK ss1579764608 Apr 01, 2015 (144)
58 EVA_UK10K_ALSPAC ss1640064674 Apr 01, 2015 (144)
59 EVA_UK10K_TWINSUK ss1683058707 Apr 01, 2015 (144)
60 EVA_DECODE ss1699456247 Apr 01, 2015 (144)
61 EVA_SVP ss1713743495 Apr 01, 2015 (144)
62 ILLUMINA ss1752422740 Sep 08, 2015 (146)
63 HAMMER_LAB ss1809803354 Sep 08, 2015 (146)
64 WEILL_CORNELL_DGM ss1938952777 Feb 12, 2016 (147)
65 ILLUMINA ss1946593984 Feb 12, 2016 (147)
66 ILLUMINA ss1959983211 Feb 12, 2016 (147)
67 JJLAB ss2030248900 Sep 14, 2016 (149)
68 USC_VALOUEV ss2158868648 Dec 20, 2016 (150)
69 HUMAN_LONGEVITY ss2247607420 Dec 20, 2016 (150)
70 TOPMED ss2414589674 Dec 20, 2016 (150)
71 SYSTEMSBIOZJU ss2629621049 Nov 08, 2017 (151)
72 ILLUMINA ss2633882783 Nov 08, 2017 (151)
73 GRF ss2704621548 Nov 08, 2017 (151)
74 ILLUMINA ss2710959268 Nov 08, 2017 (151)
75 GNOMAD ss2974776372 Nov 08, 2017 (151)
76 AFFY ss2985240091 Nov 08, 2017 (151)
77 SWEGEN ss3019359358 Nov 08, 2017 (151)
78 ILLUMINA ss3022190054 Nov 08, 2017 (151)
79 BIOINF_KMB_FNS_UNIBA ss3028960913 Nov 08, 2017 (151)
80 CSHL ss3352852324 Nov 08, 2017 (151)
81 TOPMED ss3378070343 Nov 08, 2017 (151)
82 ILLUMINA ss3625803512 Oct 12, 2018 (152)
83 ILLUMINA ss3628542626 Oct 12, 2018 (152)
84 ILLUMINA ss3631833675 Oct 12, 2018 (152)
85 ILLUMINA ss3633274363 Oct 12, 2018 (152)
86 ILLUMINA ss3633990253 Oct 12, 2018 (152)
87 ILLUMINA ss3634869841 Oct 12, 2018 (152)
88 ILLUMINA ss3635674669 Oct 12, 2018 (152)
89 ILLUMINA ss3636565380 Oct 12, 2018 (152)
90 ILLUMINA ss3637426915 Oct 12, 2018 (152)
91 ILLUMINA ss3638385076 Oct 12, 2018 (152)
92 ILLUMINA ss3640577144 Oct 12, 2018 (152)
93 ILLUMINA ss3643344504 Oct 12, 2018 (152)
94 ILLUMINA ss3644801643 Oct 12, 2018 (152)
95 OMUKHERJEE_ADBS ss3646567922 Oct 12, 2018 (152)
96 URBANLAB ss3651185906 Oct 12, 2018 (152)
97 ILLUMINA ss3652654319 Oct 12, 2018 (152)
98 ILLUMINA ss3654008290 Oct 12, 2018 (152)
99 EGCUT_WGS ss3685853022 Jul 13, 2019 (153)
100 EVA_DECODE ss3708269078 Jul 13, 2019 (153)
101 ILLUMINA ss3725971867 Jul 13, 2019 (153)
102 ACPOP ss3743962200 Jul 13, 2019 (153)
103 ILLUMINA ss3744207321 Jul 13, 2019 (153)
104 ILLUMINA ss3745169685 Jul 13, 2019 (153)
105 EVA ss3759424055 Jul 13, 2019 (153)
106 PAGE_CC ss3772094133 Jul 13, 2019 (153)
107 ILLUMINA ss3772665554 Jul 13, 2019 (153)
108 PACBIO ss3788835729 Jul 13, 2019 (153)
109 PACBIO ss3793699644 Jul 13, 2019 (153)
110 PACBIO ss3798586118 Jul 13, 2019 (153)
111 KHV_HUMAN_GENOMES ss3822584407 Jul 13, 2019 (153)
112 EVA ss3825972119 Apr 27, 2020 (154)
113 EVA ss3836008435 Apr 27, 2020 (154)
114 EVA ss3841632692 Apr 27, 2020 (154)
115 EVA ss3847147878 Apr 27, 2020 (154)
116 SGDP_PRJ ss3890619445 Apr 27, 2020 (154)
117 KRGDB ss3941009599 Apr 27, 2020 (154)
118 KOGIC ss3983712765 Apr 27, 2020 (154)
119 FSA-LAB ss3984236761 Apr 27, 2021 (155)
120 EVA ss3984761067 Apr 27, 2021 (155)
121 EVA ss3986088042 Apr 27, 2021 (155)
122 EVA ss4017882725 Apr 27, 2021 (155)
123 TOPMED ss5110420273 Apr 27, 2021 (155)
124 TOMMO_GENOMICS ss5232788573 Apr 27, 2021 (155)
125 1000Genomes NC_000022.10 - 41166135 Oct 12, 2018 (152)
126 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 41166135 Oct 12, 2018 (152)
127 Genome-wide autozygosity in Daghestan NC_000022.9 - 39496081 Apr 27, 2020 (154)
128 Genetic variation in the Estonian population NC_000022.10 - 41166135 Oct 12, 2018 (152)
129 The Danish reference pan genome NC_000022.10 - 41166135 Apr 27, 2020 (154)
130 gnomAD - Genomes NC_000022.11 - 40770131 Apr 27, 2021 (155)
131 Genome of the Netherlands Release 5 NC_000022.10 - 41166135 Apr 27, 2020 (154)
132 HapMap NC_000022.11 - 40770131 Apr 27, 2020 (154)
133 KOREAN population from KRGDB NC_000022.10 - 41166135 Apr 27, 2020 (154)
134 Korean Genome Project NC_000022.11 - 40770131 Apr 27, 2020 (154)
135 Northern Sweden NC_000022.10 - 41166135 Jul 13, 2019 (153)
136 The PAGE Study NC_000022.11 - 40770131 Jul 13, 2019 (153)
137 CNV burdens in cranial meningiomas NC_000022.10 - 41166135 Apr 27, 2021 (155)
138 Qatari NC_000022.10 - 41166135 Apr 27, 2020 (154)
139 SGDP_PRJ NC_000022.10 - 41166135 Apr 27, 2020 (154)
140 Siberian NC_000022.10 - 41166135 Apr 27, 2020 (154)
141 8.3KJPN NC_000022.10 - 41166135 Apr 27, 2021 (155)
142 TopMed NC_000022.11 - 40770131 Apr 27, 2021 (155)
143 UK 10K study - Twins NC_000022.10 - 41166135 Oct 12, 2018 (152)
144 A Vietnamese Genetic Variation Database NC_000022.10 - 41166135 Jul 13, 2019 (153)
145 ALFA NC_000022.11 - 40770131 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)
rs3171690 Jul 03, 2002 (106)
rs61169429 May 26, 2008 (130)
rs386521353 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
48186993, ss3941009599 NC_000022.10:41166134:A:C NC_000022.11:40770130:A:C (self)
300026, ss91928898, ss112665757, ss114245899, ss117414187, ss160006224, ss169333951, ss172003625, ss204097603, ss208826784, ss283646392, ss287574017, ss292766486, ss479600280, ss1397786073, ss1699456247, ss1713743495, ss3643344504 NC_000022.9:39496080:A:G NC_000022.11:40770130:A:G (self)
80856429, 44726307, 31591270, 5929547, 19927611, 48186993, 17247065, 310653, 20994699, 42636425, 11385002, 90757880, 44726307, 9865100, ss228694970, ss238079761, ss244195562, ss479605048, ss480090637, ss484598867, ss536725990, ss566661779, ss662591266, ss778391877, ss782746255, ss783713081, ss831998285, ss832703302, ss833846956, ss995384965, ss1082681979, ss1367299424, ss1429266120, ss1579764608, ss1640064674, ss1683058707, ss1752422740, ss1809803354, ss1938952777, ss1946593984, ss1959983211, ss2030248900, ss2158868648, ss2414589674, ss2629621049, ss2633882783, ss2704621548, ss2710959268, ss2974776372, ss2985240091, ss3019359358, ss3022190054, ss3352852324, ss3625803512, ss3628542626, ss3631833675, ss3633274363, ss3633990253, ss3634869841, ss3635674669, ss3636565380, ss3637426915, ss3638385076, ss3640577144, ss3644801643, ss3646567922, ss3652654319, ss3654008290, ss3685853022, ss3743962200, ss3744207321, ss3745169685, ss3759424055, ss3772665554, ss3788835729, ss3793699644, ss3798586118, ss3825972119, ss3836008435, ss3841632692, ss3890619445, ss3941009599, ss3984236761, ss3984761067, ss3986088042, ss4017882725, ss5232788573 NC_000022.10:41166134:A:G NC_000022.11:40770130:A:G (self)
570969146, 2261952, 40090766, 1315602, 240830299, 385529220, 1938541394, ss2247607420, ss3028960913, ss3378070343, ss3651185906, ss3708269078, ss3725971867, ss3772094133, ss3822584407, ss3847147878, ss3983712765, ss5110420273 NC_000022.11:40770130:A:G NC_000022.11:40770130:A:G (self)
ss13361535 NT_011520.9:20475188:A:G NC_000022.11:40770130:A:G (self)
ss52069606 NT_011520.10:20556649:A:G NC_000022.11:40770130:A:G (self)
ss14046, ss1521648, ss4393950, ss4413199, ss7998552, ss16263600, ss23569197, ss44300167, ss65740653, ss65824306, ss74969694, ss80750517, ss96127193, ss106228325, ss119339010, ss138359293, ss143200204, ss153067409, ss157208217, ss159190822, ss171596709 NT_011520.12:20556703:A:G NC_000022.11:40770130:A:G (self)
48186993, ss3941009599 NC_000022.10:41166134:A:T NC_000022.11:40770130:A: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 rs11806

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