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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.

rs4369696

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:16187297 (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=0.440663 (116639/264690, TOPMED)
A=0.481041 (123285/256288, ALFA)
A=0.445143 (62304/139964, GnomAD) (+ 19 more)
A=0.39437 (31032/78688, PAGE_STUDY)
A=0.21771 (6152/28258, 14KJPN)
A=0.21736 (3643/16760, 8.3KJPN)
A=0.3478 (2227/6404, 1000G_30x)
A=0.3387 (1696/5008, 1000G)
A=0.4984 (2233/4480, Estonian)
A=0.4943 (1905/3854, ALSPAC)
A=0.4968 (1842/3708, TWINSUK)
A=0.1703 (499/2930, KOREAN)
A=0.3547 (635/1790, HapMap)
C=0.464 (463/998, GoNL)
A=0.150 (118/788, PRJEB37584)
A=0.488 (293/600, NorthernSweden)
A=0.470 (251/534, MGP)
C=0.403 (108/268, SGDP_PRJ)
A=0.278 (60/216, Qatari)
A=0.111 (24/216, Vietnamese)
C=0.45 (18/40, GENOME_DK)
C=0.37 (11/30, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ABCC6 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 261320 C=0.519348 A=0.480652
European Sub 230090 C=0.507441 A=0.492559
African Sub 9250 C=0.6079 A=0.3921
African Others Sub 370 C=0.638 A=0.362
African American Sub 8880 C=0.6066 A=0.3934
Asian Sub 3876 C=0.8220 A=0.1780
East Asian Sub 3140 C=0.8131 A=0.1869
Other Asian Sub 736 C=0.860 A=0.140
Latin American 1 Sub 1124 C=0.5560 A=0.4440
Latin American 2 Sub 7172 C=0.5153 A=0.4847
South Asian Sub 388 C=0.683 A=0.317
Other Sub 9420 C=0.5907 A=0.4093


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=0.559337 A=0.440663
Allele Frequency Aggregator Total Global 256288 C=0.518959 A=0.481041
Allele Frequency Aggregator European Sub 227000 C=0.507463 A=0.492537
Allele Frequency Aggregator Other Sub 8620 C=0.5927 A=0.4073
Allele Frequency Aggregator African Sub 8108 C=0.6078 A=0.3922
Allele Frequency Aggregator Latin American 2 Sub 7172 C=0.5153 A=0.4847
Allele Frequency Aggregator Asian Sub 3876 C=0.8220 A=0.1780
Allele Frequency Aggregator Latin American 1 Sub 1124 C=0.5560 A=0.4440
Allele Frequency Aggregator South Asian Sub 388 C=0.683 A=0.317
gnomAD - Genomes Global Study-wide 139964 C=0.554857 A=0.445143
gnomAD - Genomes European Sub 75806 C=0.51007 A=0.48993
gnomAD - Genomes African Sub 41946 C=0.61531 A=0.38469
gnomAD - Genomes American Sub 13614 C=0.54495 A=0.45505
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=0.5657 A=0.4343
gnomAD - Genomes East Asian Sub 3128 C=0.8565 A=0.1435
gnomAD - Genomes Other Sub 2150 C=0.5619 A=0.4381
The PAGE Study Global Study-wide 78688 C=0.60563 A=0.39437
The PAGE Study AfricanAmerican Sub 32512 C=0.61116 A=0.38884
The PAGE Study Mexican Sub 10808 C=0.51702 A=0.48298
The PAGE Study Asian Sub 8316 C=0.7952 A=0.2048
The PAGE Study PuertoRican Sub 7916 C=0.5220 A=0.4780
The PAGE Study NativeHawaiian Sub 4534 C=0.7316 A=0.2684
The PAGE Study Cuban Sub 4228 C=0.5289 A=0.4711
The PAGE Study Dominican Sub 3828 C=0.5671 A=0.4329
The PAGE Study CentralAmerican Sub 2450 C=0.5657 A=0.4343
The PAGE Study SouthAmerican Sub 1980 C=0.5237 A=0.4763
The PAGE Study NativeAmerican Sub 1260 C=0.5373 A=0.4627
The PAGE Study SouthAsian Sub 856 C=0.735 A=0.265
14KJPN JAPANESE Study-wide 28258 C=0.78229 A=0.21771
8.3KJPN JAPANESE Study-wide 16760 C=0.78264 A=0.21736
1000Genomes_30x Global Study-wide 6404 C=0.6522 A=0.3478
1000Genomes_30x African Sub 1786 C=0.6545 A=0.3455
1000Genomes_30x Europe Sub 1266 C=0.4929 A=0.5071
1000Genomes_30x South Asian Sub 1202 C=0.7446 A=0.2554
1000Genomes_30x East Asian Sub 1170 C=0.8530 A=0.1470
1000Genomes_30x American Sub 980 C=0.501 A=0.499
1000Genomes Global Study-wide 5008 C=0.6613 A=0.3387
1000Genomes African Sub 1322 C=0.6664 A=0.3336
1000Genomes East Asian Sub 1008 C=0.8462 A=0.1538
1000Genomes Europe Sub 1006 C=0.5010 A=0.4990
1000Genomes South Asian Sub 978 C=0.738 A=0.262
1000Genomes American Sub 694 C=0.507 A=0.493
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5016 A=0.4984
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5057 A=0.4943
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5032 A=0.4968
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.8297 A=0.1703
HapMap Global Study-wide 1790 C=0.6453 A=0.3547
HapMap African Sub 692 C=0.614 A=0.386
HapMap American Sub 670 C=0.663 A=0.337
HapMap Asian Sub 254 C=0.772 A=0.228
HapMap Europe Sub 174 C=0.517 A=0.483
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.464 A=0.536
CNV burdens in cranial meningiomas Global Study-wide 788 C=0.850 A=0.150
CNV burdens in cranial meningiomas CRM Sub 788 C=0.850 A=0.150
Northern Sweden ACPOP Study-wide 600 C=0.512 A=0.488
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.530 A=0.470
SGDP_PRJ Global Study-wide 268 C=0.403 A=0.597
Qatari Global Study-wide 216 C=0.722 A=0.278
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.889 A=0.111
The Danish reference pan genome Danish Study-wide 40 C=0.45 A=0.55
Siberian Global Study-wide 30 C=0.37 A=0.63
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 16 NC_000016.10:g.16187297C>A
GRCh37.p13 chr 16 NC_000016.9:g.16281154C>A
ABCC6 RefSeqGene (LRG_1115) NG_007558.3:g.41321G>T
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.1845298A>C
Gene: ABCC6, ATP binding cassette subfamily C member 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCC6 transcript variant 1 NM_001171.6:c.1780-86G>T N/A Intron Variant
ABCC6 transcript variant 3 NM_001351800.1:c.1438-86G…

NM_001351800.1:c.1438-86G>T

N/A Intron Variant
ABCC6 transcript variant 2 NM_001079528.4:c. N/A Genic Downstream Transcript Variant
ABCC6 transcript variant 4 NR_147784.1:n. N/A Intron Variant
ABCC6 transcript variant X1 XM_011522479.3:c.1780-86G…

XM_011522479.3:c.1780-86G>T

N/A Intron Variant
ABCC6 transcript variant X3 XM_011522480.1:c.1438-86G…

XM_011522480.1:c.1438-86G>T

N/A Intron Variant
ABCC6 transcript variant X4 XM_011522481.4:c.1438-86G…

XM_011522481.4:c.1438-86G>T

N/A Intron Variant
ABCC6 transcript variant X10 XM_011522482.4:c.1780-86G…

XM_011522482.4:c.1780-86G>T

N/A Intron Variant
ABCC6 transcript variant X2 XM_017023212.2:c.1780-86G…

XM_017023212.2:c.1780-86G>T

N/A Intron Variant
ABCC6 transcript variant X8 XM_017023214.2:c.1780-86G…

XM_017023214.2:c.1780-86G>T

N/A Intron Variant
ABCC6 transcript variant X9 XM_047434069.1:c.1780-86G…

XM_047434069.1:c.1780-86G>T

N/A Intron Variant
ABCC6 transcript variant X5 XR_932836.3:n. N/A Intron Variant
ABCC6 transcript variant X7 XR_932837.4:n. N/A Intron Variant
ABCC6 transcript variant X6 XR_932838.4: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.

Allele: A (allele ID: 1221420 )
ClinVar Accession Disease Names Clinical Significance
RCV001610115.3 not provided Benign
RCV002253897.1 Pseudoxanthoma elasticum Benign
RCV002253898.1 Pseudoxanthoma elasticum, forme fruste Benign
RCV002253899.1 Arterial calcification, generalized, of infancy, 2 Benign
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 16 NC_000016.10:g.16187297= NC_000016.10:g.16187297C>A
GRCh37.p13 chr 16 NC_000016.9:g.16281154= NC_000016.9:g.16281154C>A
ABCC6 RefSeqGene (LRG_1115) NG_007558.3:g.41321= NG_007558.3:g.41321G>T
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.1845298A>C NT_187607.1:g.1845298=
ABCC6 transcript variant 1 NM_001171.5:c.1780-86= NM_001171.5:c.1780-86G>T
ABCC6 transcript variant 1 NM_001171.6:c.1780-86= NM_001171.6:c.1780-86G>T
ABCC6 transcript variant 3 NM_001351800.1:c.1438-86= NM_001351800.1:c.1438-86G>T
ABCC6 transcript variant X1 XM_005255310.1:c.2083-86= XM_005255310.1:c.2083-86G>T
ABCC6 transcript variant X2 XM_005255311.1:c.1438-86= XM_005255311.1:c.1438-86G>T
ABCC6 transcript variant X1 XM_011522479.3:c.1780-86= XM_011522479.3:c.1780-86G>T
ABCC6 transcript variant X3 XM_011522480.1:c.1438-86= XM_011522480.1:c.1438-86G>T
ABCC6 transcript variant X4 XM_011522481.4:c.1438-86= XM_011522481.4:c.1438-86G>T
ABCC6 transcript variant X10 XM_011522482.4:c.1780-86= XM_011522482.4:c.1780-86G>T
ABCC6 transcript variant X2 XM_017023212.2:c.1780-86= XM_017023212.2:c.1780-86G>T
ABCC6 transcript variant X8 XM_017023214.2:c.1780-86= XM_017023214.2:c.1780-86G>T
ABCC6 transcript variant X9 XM_047434069.1:c.1780-86= XM_047434069.1:c.1780-86G>T
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#.

133 SubSNP, 22 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss5824853 Feb 20, 2003 (111)
2 SSAHASNP ss21353858 Apr 05, 2004 (121)
3 ABI ss43956277 Mar 13, 2006 (126)
4 ILLUMINA ss65760394 Oct 14, 2006 (127)
5 ILLUMINA ss74908116 Dec 06, 2007 (129)
6 HUMANGENOME_JCVI ss96628357 Feb 05, 2009 (130)
7 ABCC6-LOVD ss107794997 Feb 05, 2009 (130)
8 1000GENOMES ss109235197 Jan 23, 2009 (130)
9 1000GENOMES ss114911727 Jan 25, 2009 (130)
10 ILLUMINA-UK ss118208448 Feb 14, 2009 (130)
11 KRIBB_YJKIM ss119475332 Dec 01, 2009 (131)
12 ENSEMBL ss136786373 Dec 01, 2009 (131)
13 ILLUMINA ss152536329 Dec 01, 2009 (131)
14 GMI ss157153453 Dec 01, 2009 (131)
15 ILLUMINA ss159102622 Dec 01, 2009 (131)
16 ILLUMINA ss160675432 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss167948221 Jul 04, 2010 (132)
18 ILLUMINA ss168870758 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss169310004 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss171043942 Jul 04, 2010 (132)
21 ILLUMINA ss173722408 Jul 04, 2010 (132)
22 BUSHMAN ss201504359 Jul 04, 2010 (132)
23 1000GENOMES ss227171085 Jul 14, 2010 (132)
24 1000GENOMES ss236973412 Jul 15, 2010 (132)
25 1000GENOMES ss243323930 Jul 15, 2010 (132)
26 BL ss255552573 May 09, 2011 (134)
27 GMI ss282457659 May 04, 2012 (137)
28 GMI ss287043652 Apr 25, 2013 (138)
29 PJP ss291928947 May 09, 2011 (134)
30 ILLUMINA ss480933117 May 04, 2012 (137)
31 ILLUMINA ss480952617 May 04, 2012 (137)
32 ILLUMINA ss481916266 Sep 08, 2015 (146)
33 ILLUMINA ss485261562 May 04, 2012 (137)
34 ILLUMINA ss537231031 Sep 08, 2015 (146)
35 TISHKOFF ss564816018 Apr 25, 2013 (138)
36 SSMP ss660562164 Apr 25, 2013 (138)
37 ILLUMINA ss778534803 Aug 21, 2014 (142)
38 ILLUMINA ss783076713 Sep 08, 2015 (146)
39 ILLUMINA ss784034418 Aug 21, 2014 (142)
40 ILLUMINA ss832334951 Sep 08, 2015 (146)
41 ILLUMINA ss832615418 Jul 13, 2019 (153)
42 ILLUMINA ss833991369 Aug 21, 2014 (142)
43 EVA-GONL ss992338315 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1080526171 Aug 21, 2014 (142)
45 1000GENOMES ss1355598883 Aug 21, 2014 (142)
46 DDI ss1427794675 Apr 01, 2015 (144)
47 EVA_GENOME_DK ss1577858129 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1634122144 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1677116177 Apr 01, 2015 (144)
50 EVA_DECODE ss1696373498 Apr 01, 2015 (144)
51 EVA_MGP ss1711420769 Apr 01, 2015 (144)
52 EVA_SVP ss1713529755 Apr 01, 2015 (144)
53 ILLUMINA ss1752184064 Sep 08, 2015 (146)
54 HAMMER_LAB ss1808446600 Sep 08, 2015 (146)
55 WEILL_CORNELL_DGM ss1935755852 Feb 12, 2016 (147)
56 ILLUMINA ss1946410348 Feb 12, 2016 (147)
57 ILLUMINA ss1959663834 Feb 12, 2016 (147)
58 GENOMED ss1968232408 Jul 19, 2016 (147)
59 JJLAB ss2028664928 Sep 14, 2016 (149)
60 USC_VALOUEV ss2157076464 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2211039162 Dec 20, 2016 (150)
62 ILLUMINA ss2633301246 Nov 08, 2017 (151)
63 GRF ss2701575444 Nov 08, 2017 (151)
64 ILLUMINA ss2710829223 Nov 08, 2017 (151)
65 SWEGEN ss3014157178 Nov 08, 2017 (151)
66 ILLUMINA ss3021689318 Nov 08, 2017 (151)
67 BIOINF_KMB_FNS_UNIBA ss3028158058 Nov 08, 2017 (151)
68 CSHL ss3351363073 Nov 08, 2017 (151)
69 ILLUMINA ss3625688284 Oct 12, 2018 (152)
70 ILLUMINA ss3627490151 Oct 12, 2018 (152)
71 ILLUMINA ss3631288884 Oct 12, 2018 (152)
72 ILLUMINA ss3633116090 Oct 12, 2018 (152)
73 ILLUMINA ss3633821868 Oct 12, 2018 (152)
74 ILLUMINA ss3634634842 Oct 12, 2018 (152)
75 ILLUMINA ss3635510293 Oct 12, 2018 (152)
76 ILLUMINA ss3636325330 Oct 12, 2018 (152)
77 ILLUMINA ss3637261696 Oct 12, 2018 (152)
78 ILLUMINA ss3638116648 Oct 12, 2018 (152)
79 ILLUMINA ss3638116649 Oct 12, 2018 (152)
80 ILLUMINA ss3640342162 Oct 12, 2018 (152)
81 ILLUMINA ss3643098321 Oct 12, 2018 (152)
82 ILLUMINA ss3644663437 Oct 12, 2018 (152)
83 OMUKHERJEE_ADBS ss3646487408 Oct 12, 2018 (152)
84 URBANLAB ss3650476089 Oct 12, 2018 (152)
85 ILLUMINA ss3652095779 Oct 12, 2018 (152)
86 EGCUT_WGS ss3681270297 Jul 13, 2019 (153)
87 EVA_DECODE ss3698945854 Jul 13, 2019 (153)
88 ILLUMINA ss3725548588 Jul 13, 2019 (153)
89 ACPOP ss3741382510 Jul 13, 2019 (153)
90 ILLUMINA ss3744139065 Jul 13, 2019 (153)
91 ILLUMINA ss3744935292 Jul 13, 2019 (153)
92 EVA ss3753751751 Jul 13, 2019 (153)
93 PAGE_CC ss3771869430 Jul 13, 2019 (153)
94 ILLUMINA ss3772433647 Jul 13, 2019 (153)
95 KHV_HUMAN_GENOMES ss3819045559 Jul 13, 2019 (153)
96 EVA ss3825874940 Apr 27, 2020 (154)
97 EVA ss3834501625 Apr 27, 2020 (154)
98 EVA ss3840856336 Apr 27, 2020 (154)
99 EVA ss3846347715 Apr 27, 2020 (154)
100 SGDP_PRJ ss3884058430 Apr 27, 2020 (154)
101 KRGDB ss3933370165 Apr 27, 2020 (154)
102 FSA-LAB ss3984088975 Apr 27, 2021 (155)
103 EVA ss3984710606 Apr 27, 2021 (155)
104 EVA ss3986677891 Apr 27, 2021 (155)
105 EVA ss4017728805 Apr 27, 2021 (155)
106 VINODS ss4032512776 Apr 27, 2021 (155)
107 TOPMED ss5009592772 Apr 27, 2021 (155)
108 TOMMO_GENOMICS ss5218677832 Apr 27, 2021 (155)
109 EVA ss5237233400 Apr 27, 2021 (155)
110 EVA ss5237561262 Apr 27, 2021 (155)
111 1000G_HIGH_COVERAGE ss5300328286 Oct 17, 2022 (156)
112 EVA ss5315828341 Oct 17, 2022 (156)
113 EVA ss5422656315 Oct 17, 2022 (156)
114 HUGCELL_USP ss5493827582 Oct 17, 2022 (156)
115 EVA ss5511578716 Oct 17, 2022 (156)
116 1000G_HIGH_COVERAGE ss5602647382 Oct 17, 2022 (156)
117 EVA ss5624060313 Oct 17, 2022 (156)
118 SANFORD_IMAGENETICS ss5624376182 Oct 17, 2022 (156)
119 SANFORD_IMAGENETICS ss5658573320 Oct 17, 2022 (156)
120 TOMMO_GENOMICS ss5773233487 Oct 17, 2022 (156)
121 EVA ss5799954037 Oct 17, 2022 (156)
122 EVA ss5800199405 Oct 17, 2022 (156)
123 YY_MCH ss5815804893 Oct 17, 2022 (156)
124 EVA ss5846177835 Oct 17, 2022 (156)
125 EVA ss5847459785 Oct 17, 2022 (156)
126 EVA ss5847765385 Oct 17, 2022 (156)
127 EVA ss5848419939 Oct 17, 2022 (156)
128 EVA ss5851513728 Oct 17, 2022 (156)
129 EVA ss5898493912 Oct 17, 2022 (156)
130 EVA ss5936562822 Oct 17, 2022 (156)
131 EVA ss5950003066 Oct 17, 2022 (156)
132 EVA ss5979480160 Oct 17, 2022 (156)
133 EVA ss5980909523 Oct 17, 2022 (156)
134 1000Genomes NC_000016.9 - 16281154 Oct 12, 2018 (152)
135 1000Genomes_30x NC_000016.10 - 16187297 Oct 17, 2022 (156)
136 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 16281154 Oct 12, 2018 (152)
137 Genetic variation in the Estonian population NC_000016.9 - 16281154 Oct 12, 2018 (152)
138 The Danish reference pan genome NC_000016.9 - 16281154 Apr 27, 2020 (154)
139 gnomAD - Genomes NC_000016.10 - 16187297 Apr 27, 2021 (155)
140 Genome of the Netherlands Release 5 NC_000016.9 - 16281154 Apr 27, 2020 (154)
141 HapMap NC_000016.10 - 16187297 Apr 27, 2020 (154)
142 KOREAN population from KRGDB NC_000016.9 - 16281154 Apr 27, 2020 (154)
143 Medical Genome Project healthy controls from Spanish population NC_000016.9 - 16281154 Apr 27, 2020 (154)
144 Northern Sweden NC_000016.9 - 16281154 Jul 13, 2019 (153)
145 The PAGE Study NC_000016.10 - 16187297 Jul 13, 2019 (153)
146 CNV burdens in cranial meningiomas NC_000016.9 - 16281154 Apr 27, 2021 (155)
147 Qatari NC_000016.9 - 16281154 Apr 27, 2020 (154)
148 SGDP_PRJ NC_000016.9 - 16281154 Apr 27, 2020 (154)
149 Siberian NC_000016.9 - 16281154 Apr 27, 2020 (154)
150 8.3KJPN NC_000016.9 - 16281154 Apr 27, 2021 (155)
151 14KJPN NC_000016.10 - 16187297 Oct 17, 2022 (156)
152 TopMed NC_000016.10 - 16187297 Apr 27, 2021 (155)
153 UK 10K study - Twins NC_000016.9 - 16281154 Oct 12, 2018 (152)
154 A Vietnamese Genetic Variation Database NC_000016.9 - 16281154 Jul 13, 2019 (153)
155 ALFA NC_000016.10 - 16187297 Apr 27, 2021 (155)
156 ClinVar RCV001610115.3 Oct 17, 2022 (156)
157 ClinVar RCV002253897.1 Oct 17, 2022 (156)
158 ClinVar RCV002253898.1 Oct 17, 2022 (156)
159 ClinVar RCV002253899.1 Oct 17, 2022 (156)
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)
rs386592725 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss109235197, ss114911727, ss118208448, ss167948221, ss169310004, ss171043942, ss201504359, ss255552573, ss282457659, ss287043652, ss291928947, ss480933117, ss1696373498, ss1713529755, ss3643098321 NC_000016.8:16188654:C:A NC_000016.10:16187296:C:A (self)
68740617, 38167106, 27008545, 4072826, 17025346, 40547559, 536529, 14667375, 260139, 17797774, 36075410, 9592818, 76647139, 38167106, 8478655, ss227171085, ss236973412, ss243323930, ss480952617, ss481916266, ss485261562, ss537231031, ss564816018, ss660562164, ss778534803, ss783076713, ss784034418, ss832334951, ss832615418, ss833991369, ss992338315, ss1080526171, ss1355598883, ss1427794675, ss1577858129, ss1634122144, ss1677116177, ss1711420769, ss1752184064, ss1808446600, ss1935755852, ss1946410348, ss1959663834, ss1968232408, ss2028664928, ss2157076464, ss2633301246, ss2701575444, ss2710829223, ss3014157178, ss3021689318, ss3351363073, ss3625688284, ss3627490151, ss3631288884, ss3633116090, ss3633821868, ss3634634842, ss3635510293, ss3636325330, ss3637261696, ss3638116648, ss3638116649, ss3640342162, ss3644663437, ss3646487408, ss3652095779, ss3681270297, ss3741382510, ss3744139065, ss3744935292, ss3753751751, ss3772433647, ss3825874940, ss3834501625, ss3840856336, ss3884058430, ss3933370165, ss3984088975, ss3984710606, ss3986677891, ss4017728805, ss5218677832, ss5237561262, ss5315828341, ss5422656315, ss5511578716, ss5624060313, ss5624376182, ss5658573320, ss5799954037, ss5800199405, ss5846177835, ss5847459785, ss5847765385, ss5848419939, ss5936562822, ss5950003066, ss5979480160, ss5980909523 NC_000016.9:16281153:C:A NC_000016.10:16187296:C:A (self)
RCV001610115.3, RCV002253897.1, RCV002253898.1, RCV002253899.1, 90173317, 484397661, 1359386, 1090899, 107070591, 225138433, 8272696349, ss107794997, ss2211039162, ss3028158058, ss3650476089, ss3698945854, ss3725548588, ss3771869430, ss3819045559, ss3846347715, ss5009592772, ss5237233400, ss5300328286, ss5493827582, ss5602647382, ss5773233487, ss5815804893, ss5851513728, ss5898493912 NC_000016.10:16187296:C:A NC_000016.10:16187296:C:A (self)
ss21353858 NT_010393.14:7593287:C:A NC_000016.10:16187296:C:A (self)
ss5824853, ss43956277, ss65760394, ss74908116, ss96628357, ss119475332, ss136786373, ss152536329, ss157153453, ss159102622, ss160675432, ss168870758, ss173722408 NT_010393.16:16221153:C:A NC_000016.10:16187296:C:A (self)
ss4032512776 NT_187607.1:1845297:A:A NC_000016.10:16187296: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 rs4369696

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