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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.

rs4955826

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:55001847 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.323504 (99018/306080, ALFA)
T=0.401878 (106373/264690, TOPMED)
T=0.44725 (35197/78696, PAGE_STUDY) (+ 22 more)
T=0.33506 (9468/28258, 14KJPN)
T=0.33484 (5612/16760, 8.3KJPN)
T=0.4008 (2567/6404, 1000G_30x)
T=0.3982 (1994/5008, 1000G)
T=0.3516 (1575/4480, Estonian)
T=0.3057 (1178/3854, ALSPAC)
T=0.3109 (1153/3708, TWINSUK)
T=0.3365 (986/2930, KOREAN)
T=0.3767 (785/2084, HGDP_Stanford)
T=0.4234 (801/1892, HapMap)
T=0.3062 (561/1832, Korea1K)
T=0.2835 (322/1136, Daghestan)
T=0.324 (323/998, GoNL)
T=0.345 (272/788, PRJEB37584)
T=0.351 (220/626, Chileans)
T=0.315 (189/600, NorthernSweden)
C=0.361 (119/330, SGDP_PRJ)
T=0.236 (51/216, Qatari)
T=0.290 (62/214, Vietnamese)
T=0.20 (10/50, Ancient Sardinia)
T=0.45 (18/40, GENOME_DK)
C=0.42 (10/24, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CACNA2D3 : 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 311116 C=0.675282 G=0.000000, T=0.324718
European Sub 270514 C=0.687883 G=0.000000, T=0.312117
African Sub 11078 C=0.47274 G=0.00000, T=0.52726
African Others Sub 396 C=0.429 G=0.000, T=0.571
African American Sub 10682 C=0.47435 G=0.00000, T=0.52565
Asian Sub 3932 C=0.6712 G=0.0000, T=0.3288
East Asian Sub 3168 C=0.6806 G=0.0000, T=0.3194
Other Asian Sub 764 C=0.632 G=0.000, T=0.368
Latin American 1 Sub 1194 C=0.5997 G=0.0000, T=0.4003
Latin American 2 Sub 8954 C=0.5773 G=0.0000, T=0.4227
South Asian Sub 5202 C=0.7009 G=0.0000, T=0.2991
Other Sub 10242 C=0.64460 G=0.00000, T=0.35540


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 306080 C=0.676496 G=0.000000, T=0.323504
Allele Frequency Aggregator European Sub 267420 C=0.688120 G=0.000000, T=0.311880
Allele Frequency Aggregator African Sub 9936 C=0.4768 G=0.0000, T=0.5232
Allele Frequency Aggregator Other Sub 9442 C=0.6501 G=0.0000, T=0.3499
Allele Frequency Aggregator Latin American 2 Sub 8954 C=0.5773 G=0.0000, T=0.4227
Allele Frequency Aggregator South Asian Sub 5202 C=0.7009 G=0.0000, T=0.2991
Allele Frequency Aggregator Asian Sub 3932 C=0.6712 G=0.0000, T=0.3288
Allele Frequency Aggregator Latin American 1 Sub 1194 C=0.5997 G=0.0000, T=0.4003
TopMed Global Study-wide 264690 C=0.598122 T=0.401878
The PAGE Study Global Study-wide 78696 C=0.55275 T=0.44725
The PAGE Study AfricanAmerican Sub 32514 C=0.46189 T=0.53811
The PAGE Study Mexican Sub 10810 C=0.54949 T=0.45051
The PAGE Study Asian Sub 8316 C=0.6685 T=0.3315
The PAGE Study PuertoRican Sub 7918 C=0.6158 T=0.3842
The PAGE Study NativeHawaiian Sub 4534 C=0.7225 T=0.2775
The PAGE Study Cuban Sub 4230 C=0.6626 T=0.3374
The PAGE Study Dominican Sub 3828 C=0.5374 T=0.4626
The PAGE Study CentralAmerican Sub 2450 C=0.5714 T=0.4286
The PAGE Study SouthAmerican Sub 1982 C=0.6241 T=0.3759
The PAGE Study NativeAmerican Sub 1260 C=0.5794 T=0.4206
The PAGE Study SouthAsian Sub 854 C=0.706 T=0.294
14KJPN JAPANESE Study-wide 28258 C=0.66494 T=0.33506
8.3KJPN JAPANESE Study-wide 16760 C=0.66516 T=0.33484
1000Genomes_30x Global Study-wide 6404 C=0.5992 T=0.4008
1000Genomes_30x African Sub 1786 C=0.4188 T=0.5812
1000Genomes_30x Europe Sub 1266 C=0.6722 T=0.3278
1000Genomes_30x South Asian Sub 1202 C=0.7088 T=0.2912
1000Genomes_30x East Asian Sub 1170 C=0.6607 T=0.3393
1000Genomes_30x American Sub 980 C=0.626 T=0.374
1000Genomes Global Study-wide 5008 C=0.6018 T=0.3982
1000Genomes African Sub 1322 C=0.4168 T=0.5832
1000Genomes East Asian Sub 1008 C=0.6528 T=0.3472
1000Genomes Europe Sub 1006 C=0.6720 T=0.3280
1000Genomes South Asian Sub 978 C=0.709 T=0.291
1000Genomes American Sub 694 C=0.628 T=0.372
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.6484 T=0.3516
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.6943 T=0.3057
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.6891 T=0.3109
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6635 T=0.3365
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.6233 T=0.3767
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.630 T=0.370
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.669 T=0.331
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.709 T=0.291
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.678 T=0.322
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.409 T=0.591
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.486 T=0.514
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.79 T=0.21
HapMap Global Study-wide 1892 C=0.5766 T=0.4234
HapMap American Sub 770 C=0.623 T=0.377
HapMap African Sub 692 C=0.455 T=0.545
HapMap Asian Sub 254 C=0.665 T=0.335
HapMap Europe Sub 176 C=0.722 T=0.278
Korean Genome Project KOREAN Study-wide 1832 C=0.6938 T=0.3062
Genome-wide autozygosity in Daghestan Global Study-wide 1136 C=0.7165 T=0.2835
Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.705 T=0.295
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.729 T=0.271
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.754 T=0.246
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.741 T=0.259
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.70 T=0.30
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.69 T=0.31
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.676 T=0.324
CNV burdens in cranial meningiomas Global Study-wide 788 C=0.655 T=0.345
CNV burdens in cranial meningiomas CRM Sub 788 C=0.655 T=0.345
Chileans Chilean Study-wide 626 C=0.649 T=0.351
Northern Sweden ACPOP Study-wide 600 C=0.685 T=0.315
SGDP_PRJ Global Study-wide 330 C=0.361 T=0.639
Qatari Global Study-wide 216 C=0.764 T=0.236
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.710 T=0.290
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 50 C=0.80 T=0.20
The Danish reference pan genome Danish Study-wide 40 C=0.55 T=0.45
Siberian Global Study-wide 24 C=0.42 T=0.58
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 3 NC_000003.12:g.55001847C>G
GRCh38.p14 chr 3 NC_000003.12:g.55001847C>T
GRCh37.p13 chr 3 NC_000003.11:g.55035874C>G
GRCh37.p13 chr 3 NC_000003.11:g.55035874C>T
Gene: CACNA2D3, calcium voltage-gated channel auxiliary subunit alpha2delta 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CACNA2D3 transcript NM_018398.3:c.2691-2916C>G N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= G T
GRCh38.p14 chr 3 NC_000003.12:g.55001847= NC_000003.12:g.55001847C>G NC_000003.12:g.55001847C>T
GRCh37.p13 chr 3 NC_000003.11:g.55035874= NC_000003.11:g.55035874C>G NC_000003.11:g.55035874C>T
CACNA2D3 transcript NM_018398.2:c.2691-2916= NM_018398.2:c.2691-2916C>G NM_018398.2:c.2691-2916C>T
CACNA2D3 transcript NM_018398.3:c.2691-2916= NM_018398.3:c.2691-2916C>G NM_018398.3:c.2691-2916C>T
CACNA2D3 transcript variant X1 XM_005265318.1:c.2673-2916= XM_005265318.1:c.2673-2916C>G XM_005265318.1:c.2673-2916C>T
CACNA2D3 transcript variant X2 XM_005265319.1:c.2620-2916= XM_005265319.1:c.2620-2916C>G XM_005265319.1:c.2620-2916C>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#.

137 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6857581 Feb 20, 2003 (111)
2 BCM_SSAHASNP ss14245051 Dec 05, 2003 (119)
3 PERLEGEN ss23229440 Sep 20, 2004 (123)
4 ILLUMINA ss66653180 Nov 29, 2006 (127)
5 ILLUMINA ss67404398 Nov 29, 2006 (127)
6 ILLUMINA ss67772236 Nov 29, 2006 (127)
7 CSHL-HAPMAP ss68394063 Jan 12, 2007 (127)
8 PERLEGEN ss68861635 May 16, 2007 (127)
9 ILLUMINA ss70838950 May 25, 2008 (130)
10 ILLUMINA ss71422573 May 16, 2007 (127)
11 ILLUMINA ss75536275 Dec 07, 2007 (129)
12 AFFY ss76503839 Dec 07, 2007 (129)
13 ILLUMINA ss79204329 Dec 15, 2007 (130)
14 HGSV ss83180982 Dec 15, 2007 (130)
15 KRIBB_YJKIM ss84410124 Dec 15, 2007 (130)
16 HGSV ss85108227 Dec 15, 2007 (130)
17 SNP500CANCER ss105438785 Feb 05, 2009 (130)
18 1000GENOMES ss110166042 Jan 24, 2009 (130)
19 ILLUMINA-UK ss117086657 Feb 14, 2009 (130)
20 ILLUMINA ss122441894 Dec 01, 2009 (131)
21 ILLUMINA ss154332068 Dec 01, 2009 (131)
22 ILLUMINA ss159508549 Dec 01, 2009 (131)
23 ILLUMINA ss160732294 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss162142095 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss163420186 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss166560539 Jul 04, 2010 (132)
27 ILLUMINA ss171993404 Jul 04, 2010 (132)
28 ILLUMINA ss173890738 Jul 04, 2010 (132)
29 BUSHMAN ss202531938 Jul 04, 2010 (132)
30 1000GENOMES ss220141347 Jul 14, 2010 (132)
31 1000GENOMES ss231823608 Jul 14, 2010 (132)
32 1000GENOMES ss239237445 Jul 15, 2010 (132)
33 BL ss253097764 May 09, 2011 (134)
34 GMI ss277128623 May 04, 2012 (137)
35 PJP ss292797667 May 09, 2011 (134)
36 ILLUMINA ss481114853 May 04, 2012 (137)
37 ILLUMINA ss481136854 May 04, 2012 (137)
38 ILLUMINA ss482126545 Sep 08, 2015 (146)
39 ILLUMINA ss485352491 May 04, 2012 (137)
40 ILLUMINA ss537298719 Sep 08, 2015 (146)
41 TISHKOFF ss556620189 Apr 25, 2013 (138)
42 SSMP ss650298427 Apr 25, 2013 (138)
43 ILLUMINA ss778926390 Sep 08, 2015 (146)
44 ILLUMINA ss783121967 Sep 08, 2015 (146)
45 ILLUMINA ss784078725 Sep 08, 2015 (146)
46 ILLUMINA ss825534847 Apr 01, 2015 (144)
47 ILLUMINA ss832380759 Sep 08, 2015 (146)
48 ILLUMINA ss833019874 Jul 13, 2019 (153)
49 ILLUMINA ss834387874 Sep 08, 2015 (146)
50 EVA-GONL ss978600315 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1070414413 Aug 21, 2014 (142)
52 1000GENOMES ss1304044176 Aug 21, 2014 (142)
53 HAMMER_LAB ss1397337894 Sep 08, 2015 (146)
54 EVA_GENOME_DK ss1579965723 Apr 01, 2015 (144)
55 EVA_DECODE ss1588072094 Apr 01, 2015 (144)
56 EVA_UK10K_ALSPAC ss1607091381 Apr 01, 2015 (144)
57 EVA_UK10K_TWINSUK ss1650085414 Apr 01, 2015 (144)
58 EVA_SVP ss1712576306 Apr 01, 2015 (144)
59 ILLUMINA ss1752476037 Sep 08, 2015 (146)
60 HAMMER_LAB ss1799287063 Sep 08, 2015 (146)
61 WEILL_CORNELL_DGM ss1921840047 Feb 12, 2016 (147)
62 ILLUMINA ss1946084447 Feb 12, 2016 (147)
63 ILLUMINA ss1958566461 Feb 12, 2016 (147)
64 GENOMED ss1969393921 Jul 19, 2016 (147)
65 JJLAB ss2021478921 Sep 14, 2016 (149)
66 USC_VALOUEV ss2149552987 Dec 20, 2016 (150)
67 HUMAN_LONGEVITY ss2251665928 Dec 20, 2016 (150)
68 SYSTEMSBIOZJU ss2625238000 Nov 08, 2017 (151)
69 ILLUMINA ss2633950398 Nov 08, 2017 (151)
70 GRF ss2704927394 Nov 08, 2017 (151)
71 ILLUMINA ss2710972881 Nov 08, 2017 (151)
72 GNOMAD ss2793089110 Nov 08, 2017 (151)
73 SWEGEN ss2992330924 Nov 08, 2017 (151)
74 ILLUMINA ss3022242437 Nov 08, 2017 (151)
75 BIOINF_KMB_FNS_UNIBA ss3024501066 Nov 08, 2017 (151)
76 CSHL ss3345021614 Nov 08, 2017 (151)
77 ILLUMINA ss3625816190 Oct 12, 2018 (152)
78 ILLUMINA ss3628663581 Oct 12, 2018 (152)
79 ILLUMINA ss3631896385 Oct 12, 2018 (152)
80 ILLUMINA ss3633292429 Oct 12, 2018 (152)
81 ILLUMINA ss3634009479 Oct 12, 2018 (152)
82 ILLUMINA ss3634896358 Oct 12, 2018 (152)
83 ILLUMINA ss3635693419 Oct 12, 2018 (152)
84 ILLUMINA ss3636591213 Oct 12, 2018 (152)
85 ILLUMINA ss3637445782 Oct 12, 2018 (152)
86 ILLUMINA ss3638415696 Oct 12, 2018 (152)
87 ILLUMINA ss3639210423 Oct 12, 2018 (152)
88 ILLUMINA ss3639623182 Oct 12, 2018 (152)
89 ILLUMINA ss3640603659 Oct 12, 2018 (152)
90 ILLUMINA ss3641145116 Oct 12, 2018 (152)
91 ILLUMINA ss3641441684 Oct 12, 2018 (152)
92 ILLUMINA ss3643372647 Oct 12, 2018 (152)
93 ILLUMINA ss3644817027 Oct 12, 2018 (152)
94 ILLUMINA ss3652717253 Oct 12, 2018 (152)
95 EGCUT_WGS ss3660253182 Jul 13, 2019 (153)
96 EVA_DECODE ss3709251142 Jul 13, 2019 (153)
97 ILLUMINA ss3726018192 Jul 13, 2019 (153)
98 ACPOP ss3729893559 Jul 13, 2019 (153)
99 ILLUMINA ss3744215020 Jul 13, 2019 (153)
100 ILLUMINA ss3745196315 Jul 13, 2019 (153)
101 EVA ss3760045227 Jul 13, 2019 (153)
102 PAGE_CC ss3771033739 Jul 13, 2019 (153)
103 ILLUMINA ss3772691777 Jul 13, 2019 (153)
104 PACBIO ss3784316523 Jul 13, 2019 (153)
105 PACBIO ss3789831742 Jul 13, 2019 (153)
106 PACBIO ss3794705706 Jul 13, 2019 (153)
107 KHV_HUMAN_GENOMES ss3803180282 Jul 13, 2019 (153)
108 EVA ss3827813122 Apr 25, 2020 (154)
109 EVA ss3837328640 Apr 25, 2020 (154)
110 EVA ss3842754120 Apr 25, 2020 (154)
111 HGDP ss3847707637 Apr 25, 2020 (154)
112 SGDP_PRJ ss3855864906 Apr 25, 2020 (154)
113 KRGDB ss3901725344 Apr 25, 2020 (154)
114 KOGIC ss3951290670 Apr 25, 2020 (154)
115 EVA ss3984507897 Apr 26, 2021 (155)
116 EVA ss3984991507 Apr 26, 2021 (155)
117 TOPMED ss4565078168 Apr 26, 2021 (155)
118 TOMMO_GENOMICS ss5159212438 Apr 26, 2021 (155)
119 EVA ss5237323974 Apr 26, 2021 (155)
120 1000G_HIGH_COVERAGE ss5254122027 Oct 12, 2022 (156)
121 EVA ss5314856753 Oct 12, 2022 (156)
122 EVA ss5339880339 Oct 12, 2022 (156)
123 HUGCELL_USP ss5453508324 Oct 12, 2022 (156)
124 EVA ss5506995705 Oct 12, 2022 (156)
125 1000G_HIGH_COVERAGE ss5532508659 Oct 12, 2022 (156)
126 SANFORD_IMAGENETICS ss5624518639 Oct 12, 2022 (156)
127 SANFORD_IMAGENETICS ss5632148570 Oct 12, 2022 (156)
128 TOMMO_GENOMICS ss5690893222 Oct 12, 2022 (156)
129 EVA ss5799578514 Oct 12, 2022 (156)
130 YY_MCH ss5803746126 Oct 12, 2022 (156)
131 EVA ss5825768310 Oct 12, 2022 (156)
132 EVA ss5847217828 Oct 12, 2022 (156)
133 EVA ss5847966534 Oct 12, 2022 (156)
134 EVA ss5853614967 Oct 12, 2022 (156)
135 EVA ss5868876409 Oct 12, 2022 (156)
136 EVA ss5960443438 Oct 12, 2022 (156)
137 EVA ss5979656625 Oct 12, 2022 (156)
138 1000Genomes NC_000003.11 - 55035874 Oct 12, 2018 (152)
139 1000Genomes_30x NC_000003.12 - 55001847 Oct 12, 2022 (156)
140 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 55035874 Oct 12, 2018 (152)
141 Chileans NC_000003.11 - 55035874 Apr 25, 2020 (154)
142 Genome-wide autozygosity in Daghestan NC_000003.10 - 55010914 Apr 25, 2020 (154)
143 Genetic variation in the Estonian population NC_000003.11 - 55035874 Oct 12, 2018 (152)
144 The Danish reference pan genome NC_000003.11 - 55035874 Apr 25, 2020 (154)
145 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 108144095 (NC_000003.12:55001846:C:G 1/140070)
Row 108144096 (NC_000003.12:55001846:C:T 55704/139982)

- Apr 26, 2021 (155)
146 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 108144095 (NC_000003.12:55001846:C:G 1/140070)
Row 108144096 (NC_000003.12:55001846:C:T 55704/139982)

- Apr 26, 2021 (155)
147 Genome of the Netherlands Release 5 NC_000003.11 - 55035874 Apr 25, 2020 (154)
148 HGDP-CEPH-db Supplement 1 NC_000003.10 - 55010914 Apr 25, 2020 (154)
149 HapMap NC_000003.12 - 55001847 Apr 25, 2020 (154)
150 KOREAN population from KRGDB NC_000003.11 - 55035874 Apr 25, 2020 (154)
151 Korean Genome Project NC_000003.12 - 55001847 Apr 25, 2020 (154)
152 Northern Sweden NC_000003.11 - 55035874 Jul 13, 2019 (153)
153 The PAGE Study NC_000003.12 - 55001847 Jul 13, 2019 (153)
154 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000003.11 - 55035874 Apr 26, 2021 (155)
155 CNV burdens in cranial meningiomas NC_000003.11 - 55035874 Apr 26, 2021 (155)
156 Qatari NC_000003.11 - 55035874 Apr 25, 2020 (154)
157 SGDP_PRJ NC_000003.11 - 55035874 Apr 25, 2020 (154)
158 Siberian NC_000003.11 - 55035874 Apr 25, 2020 (154)
159 8.3KJPN NC_000003.11 - 55035874 Apr 26, 2021 (155)
160 14KJPN NC_000003.12 - 55001847 Oct 12, 2022 (156)
161 TopMed NC_000003.12 - 55001847 Apr 26, 2021 (155)
162 UK 10K study - Twins NC_000003.11 - 55035874 Oct 12, 2018 (152)
163 A Vietnamese Genetic Variation Database NC_000003.11 - 55035874 Jul 13, 2019 (153)
164 ALFA NC_000003.12 - 55001847 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)
rs59538318 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2793089110 NC_000003.11:55035873:C:G NC_000003.12:55001846:C:G (self)
2650968449 NC_000003.12:55001846:C:G NC_000003.12:55001846:C:G (self)
ss83180982, ss85108227, ss3639210423, ss3639623182 NC_000003.9:55010913:C:T NC_000003.12:55001846:C:T (self)
313892, 385529, ss76503839, ss110166042, ss117086657, ss162142095, ss163420186, ss166560539, ss202531938, ss253097764, ss277128623, ss292797667, ss481114853, ss825534847, ss1397337894, ss1588072094, ss1712576306, ss3643372647, ss3847707637 NC_000003.10:55010913:C:T NC_000003.12:55001846:C:T (self)
15233475, 8473492, 284627, 5991430, 6130662, 3714710, 8902738, 3178424, 217434, 57243, 3881977, 7881886, 2069341, 17181745, 8473492, 1839944, ss220141347, ss231823608, ss239237445, ss481136854, ss482126545, ss485352491, ss537298719, ss556620189, ss650298427, ss778926390, ss783121967, ss784078725, ss832380759, ss833019874, ss834387874, ss978600315, ss1070414413, ss1304044176, ss1579965723, ss1607091381, ss1650085414, ss1752476037, ss1799287063, ss1921840047, ss1946084447, ss1958566461, ss1969393921, ss2021478921, ss2149552987, ss2625238000, ss2633950398, ss2704927394, ss2710972881, ss2793089110, ss2992330924, ss3022242437, ss3345021614, ss3625816190, ss3628663581, ss3631896385, ss3633292429, ss3634009479, ss3634896358, ss3635693419, ss3636591213, ss3637445782, ss3638415696, ss3640603659, ss3641145116, ss3641441684, ss3644817027, ss3652717253, ss3660253182, ss3729893559, ss3744215020, ss3745196315, ss3760045227, ss3772691777, ss3784316523, ss3789831742, ss3794705706, ss3827813122, ss3837328640, ss3855864906, ss3901725344, ss3984507897, ss3984991507, ss5159212438, ss5237323974, ss5314856753, ss5339880339, ss5506995705, ss5624518639, ss5632148570, ss5799578514, ss5825768310, ss5847217828, ss5847966534, ss5960443438, ss5979656625 NC_000003.11:55035873:C:T NC_000003.12:55001846:C:T (self)
20034594, 2361138, 7668671, 255208, 24730326, 402455723, 2650968449, ss2251665928, ss3024501066, ss3709251142, ss3726018192, ss3771033739, ss3803180282, ss3842754120, ss3951290670, ss4565078168, ss5254122027, ss5453508324, ss5532508659, ss5690893222, ss5803746126, ss5853614967, ss5868876409 NC_000003.12:55001846:C:T NC_000003.12:55001846:C:T (self)
ss14245051 NT_022517.16:54958221:C:T NC_000003.12:55001846:C:T (self)
ss6857581, ss23229440, ss66653180, ss67404398, ss67772236, ss68394063, ss68861635, ss70838950, ss71422573, ss75536275, ss79204329, ss84410124, ss105438785, ss122441894, ss154332068, ss159508549, ss160732294, ss171993404, ss173890738 NT_022517.18:54975873:C:T NC_000003.12:55001846:C: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 rs4955826

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