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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.

rs385955

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:2836032 (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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.443749 (117456/264690, TOPMED)
T=0.46257 (18436/39856, ALFA)
T=0.47401 (6165/13006, GO-ESP) (+ 17 more)
T=0.4502 (2883/6404, 1000G_30x)
T=0.4501 (2254/5008, 1000G)
T=0.4636 (2077/4480, Estonian)
T=0.4351 (1677/3854, ALSPAC)
T=0.4086 (1515/3708, TWINSUK)
T=0.4034 (1182/2930, KOREAN)
T=0.415 (414/998, GoNL)
T=0.493 (302/613, Vietnamese)
T=0.495 (297/600, NorthernSweden)
T=0.421 (225/534, MGP)
T=0.276 (137/496, SGDP_PRJ)
T=0.458 (141/308, HapMap)
A=0.444 (135/304, FINRISK)
T=0.407 (88/216, Qatari)
T=0.50 (20/40, GENOME_DK)
A=0.50 (20/40, GENOME_DK)
T=0.30 (12/40, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SERPINB1 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 39856 T=0.46257 A=0.53743, G=0.00000 0.237906 0.312776 0.449318 32
European Sub 31106 T=0.45445 A=0.54555, G=0.00000 0.226902 0.318009 0.455089 32
African Sub 1508 T=0.7188 A=0.2812, G=0.0000 0.603448 0.165782 0.230769 32
African Others Sub 40 T=0.80 A=0.20, G=0.00 0.7 0.1 0.2 2
African American Sub 1468 T=0.7166 A=0.2834, G=0.0000 0.600817 0.167575 0.231608 32
Asian Sub 74 T=0.53 A=0.47, G=0.00 0.324324 0.27027 0.405405 1
East Asian Sub 38 T=0.53 A=0.47, G=0.00 0.368421 0.315789 0.315789 2
Other Asian Sub 36 T=0.53 A=0.47, G=0.00 0.277778 0.222222 0.5 0
Latin American 1 Sub 372 T=0.462 A=0.538, G=0.000 0.215054 0.290323 0.494624 0
Latin American 2 Sub 90 T=0.86 A=0.14, G=0.00 0.822222 0.111111 0.066667 13
South Asian Sub 14 T=0.86 A=0.14, G=0.00 0.714286 0.0 0.285714 0
Other Sub 6692 T=0.4357 A=0.5643, G=0.0000 0.198147 0.326659 0.475194 2


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 T=0.443749 A=0.556251
Allele Frequency Aggregator Total Global 39856 T=0.46257 A=0.53743, G=0.00000
Allele Frequency Aggregator European Sub 31106 T=0.45445 A=0.54555, G=0.00000
Allele Frequency Aggregator Other Sub 6692 T=0.4357 A=0.5643, G=0.0000
Allele Frequency Aggregator African Sub 1508 T=0.7188 A=0.2812, G=0.0000
Allele Frequency Aggregator Latin American 1 Sub 372 T=0.462 A=0.538, G=0.000
Allele Frequency Aggregator Latin American 2 Sub 90 T=0.86 A=0.14, G=0.00
Allele Frequency Aggregator Asian Sub 74 T=0.53 A=0.47, G=0.00
Allele Frequency Aggregator South Asian Sub 14 T=0.86 A=0.14, G=0.00
GO Exome Sequencing Project Global Study-wide 13006 T=0.47401 A=0.52599
GO Exome Sequencing Project European American Sub 8600 T=0.4248 A=0.5752
GO Exome Sequencing Project African American Sub 4406 T=0.5701 A=0.4299
1000Genomes_30x Global Study-wide 6404 T=0.4502 A=0.5498
1000Genomes_30x African Sub 1786 T=0.5487 A=0.4513
1000Genomes_30x Europe Sub 1266 T=0.4107 A=0.5893
1000Genomes_30x South Asian Sub 1202 T=0.4526 A=0.5474
1000Genomes_30x East Asian Sub 1170 T=0.4291 A=0.5709
1000Genomes_30x American Sub 980 T=0.344 A=0.656
1000Genomes Global Study-wide 5008 T=0.4501 A=0.5499
1000Genomes African Sub 1322 T=0.5499 A=0.4501
1000Genomes East Asian Sub 1008 T=0.4315 A=0.5685
1000Genomes Europe Sub 1006 T=0.4175 A=0.5825
1000Genomes South Asian Sub 978 T=0.447 A=0.553
1000Genomes American Sub 694 T=0.339 A=0.661
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4636 A=0.5364
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4351 A=0.5649
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4086 A=0.5914
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.4034 A=0.5966, C=0.0000, G=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.415 A=0.585
A Vietnamese Genetic Variation Database Global Study-wide 613 T=0.493 A=0.507
Northern Sweden ACPOP Study-wide 600 T=0.495 A=0.505
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.421 A=0.579
SGDP_PRJ Global Study-wide 496 T=0.276 A=0.724
HapMap Global Study-wide 308 T=0.458 A=0.542
HapMap American Sub 116 T=0.362 A=0.638
HapMap African Sub 106 T=0.651 A=0.349
HapMap Asian Sub 86 T=0.35 A=0.65
FINRISK Finnish from FINRISK project Study-wide 304 T=0.556 A=0.444
Qatari Global Study-wide 216 T=0.407 A=0.593
The Danish reference pan genome Danish Study-wide 40 T=0.50 A=0.50
Siberian Global Study-wide 40 T=0.30 A=0.70
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 6 NC_000006.12:g.2836032T>A
GRCh38.p14 chr 6 NC_000006.12:g.2836032T>C
GRCh38.p14 chr 6 NC_000006.12:g.2836032T>G
GRCh37.p13 chr 6 NC_000006.11:g.2836266T>A
GRCh37.p13 chr 6 NC_000006.11:g.2836266T>C
GRCh37.p13 chr 6 NC_000006.11:g.2836266T>G
Gene: SERPINB1, serpin family B member 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SERPINB1 transcript variant 1 NM_030666.4:c.568-9A>T N/A Intron Variant
SERPINB1 transcript variant 2 NR_073111.2:n. N/A Intron Variant
SERPINB1 transcript variant 3 NR_073112.2:n. N/A Intron Variant
SERPINB1 transcript variant X1 XM_011514333.2:c.568-9A>T N/A Intron Variant
SERPINB1 transcript variant X2 XM_011514334.3:c.568-9A>T N/A Intron Variant
SERPINB1 transcript variant X4 XM_011514335.3:c.421-9A>T N/A Intron Variant
SERPINB1 transcript variant X3 XM_047418269.1:c.421-9A>T 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: 1232370 )
ClinVar Accession Disease Names Clinical Significance
RCV001648384.2 not provided 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 T= A C G
GRCh38.p14 chr 6 NC_000006.12:g.2836032= NC_000006.12:g.2836032T>A NC_000006.12:g.2836032T>C NC_000006.12:g.2836032T>G
GRCh37.p13 chr 6 NC_000006.11:g.2836266= NC_000006.11:g.2836266T>A NC_000006.11:g.2836266T>C NC_000006.11:g.2836266T>G
SERPINB1 transcript variant 1 NM_030666.3:c.568-9= NM_030666.3:c.568-9A>T NM_030666.3:c.568-9A>G NM_030666.3:c.568-9A>C
SERPINB1 transcript variant 1 NM_030666.4:c.568-9= NM_030666.4:c.568-9A>T NM_030666.4:c.568-9A>G NM_030666.4:c.568-9A>C
SERPINB1 transcript variant X1 XM_011514333.2:c.568-9= XM_011514333.2:c.568-9A>T XM_011514333.2:c.568-9A>G XM_011514333.2:c.568-9A>C
SERPINB1 transcript variant X2 XM_011514334.3:c.568-9= XM_011514334.3:c.568-9A>T XM_011514334.3:c.568-9A>G XM_011514334.3:c.568-9A>C
SERPINB1 transcript variant X4 XM_011514335.3:c.421-9= XM_011514335.3:c.421-9A>T XM_011514335.3:c.421-9A>G XM_011514335.3:c.421-9A>C
SERPINB1 transcript variant X3 XM_047418269.1:c.421-9= XM_047418269.1:c.421-9A>T XM_047418269.1:c.421-9A>G XM_047418269.1:c.421-9A>C
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#.

102 SubSNP, 31 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss497377 Jul 16, 2000 (80)
2 YUSUKE ss3236923 Sep 28, 2001 (100)
3 SC_SNP ss14800813 Dec 05, 2003 (119)
4 SSAHASNP ss22406102 Apr 05, 2004 (121)
5 ABI ss44765792 Mar 13, 2006 (126)
6 AFFY ss76542465 Dec 08, 2007 (130)
7 HGSV ss83926925 Dec 15, 2007 (130)
8 BCMHGSC_JDW ss93369924 Mar 24, 2008 (129)
9 BGI ss104272625 Dec 01, 2009 (131)
10 1000GENOMES ss109698975 Jan 24, 2009 (130)
11 ILLUMINA-UK ss116272149 Feb 14, 2009 (130)
12 ENSEMBL ss143688483 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss161964891 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss163061875 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss166028775 Jul 04, 2010 (132)
16 BUSHMAN ss201331147 Jul 04, 2010 (132)
17 1000GENOMES ss211773493 Jul 14, 2010 (132)
18 1000GENOMES ss222170209 Jul 14, 2010 (132)
19 1000GENOMES ss233295844 Jul 14, 2010 (132)
20 1000GENOMES ss240387372 Jul 15, 2010 (132)
21 BL ss253988584 May 09, 2011 (134)
22 GMI ss278626296 May 04, 2012 (137)
23 GMI ss285326996 Apr 25, 2013 (138)
24 PJP ss293584744 May 09, 2011 (134)
25 1000GENOMES ss490918566 May 04, 2012 (137)
26 CLINSEQ_SNP ss491879899 May 04, 2012 (137)
27 ILLUMINA ss535380785 Sep 08, 2015 (146)
28 TISHKOFF ss558957382 Apr 25, 2013 (138)
29 SSMP ss652869301 Apr 25, 2013 (138)
30 NHLBI-ESP ss712687955 Apr 25, 2013 (138)
31 EVA-GONL ss982514718 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1067474887 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1073328763 Aug 21, 2014 (142)
34 1000GENOMES ss1318713584 Aug 21, 2014 (142)
35 DDI ss1430615797 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1581504032 Apr 01, 2015 (144)
37 EVA_FINRISK ss1584043436 Apr 01, 2015 (144)
38 EVA_DECODE ss1592060351 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1614809245 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1657803278 Apr 01, 2015 (144)
41 EVA_EXAC ss1688139785 Apr 01, 2015 (144)
42 EVA_EXAC ss1688139786 Apr 01, 2015 (144)
43 EVA_MGP ss1711110296 Apr 01, 2015 (144)
44 EVA_SVP ss1712829910 Apr 01, 2015 (144)
45 HAMMER_LAB ss1804248412 Sep 08, 2015 (146)
46 WEILL_CORNELL_DGM ss1925771999 Feb 12, 2016 (147)
47 GENOMED ss1970294104 Jul 19, 2016 (147)
48 JJLAB ss2023500485 Sep 14, 2016 (149)
49 USC_VALOUEV ss2151662332 Dec 20, 2016 (150)
50 HUMAN_LONGEVITY ss2281263494 Dec 20, 2016 (150)
51 SYSTEMSBIOZJU ss2626238500 Nov 08, 2017 (151)
52 GRF ss2707246968 Nov 08, 2017 (151)
53 GNOMAD ss2735510014 Nov 08, 2017 (151)
54 GNOMAD ss2747537810 Nov 08, 2017 (151)
55 GNOMAD ss2835075775 Nov 08, 2017 (151)
56 SWEGEN ss2998410223 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3025533692 Nov 08, 2017 (151)
58 CSHL ss3346803870 Nov 08, 2017 (151)
59 ILLUMINA ss3629427771 Oct 12, 2018 (152)
60 OMUKHERJEE_ADBS ss3646330022 Oct 12, 2018 (152)
61 URBANLAB ss3648253195 Oct 12, 2018 (152)
62 EGCUT_WGS ss3666333437 Jul 13, 2019 (153)
63 EVA_DECODE ss3716452750 Jul 13, 2019 (153)
64 ACPOP ss3733144342 Jul 13, 2019 (153)
65 EVA ss3764530628 Jul 13, 2019 (153)
66 PACBIO ss3785353435 Jul 13, 2019 (153)
67 PACBIO ss3790721596 Jul 13, 2019 (153)
68 PACBIO ss3795598747 Jul 13, 2019 (153)
69 KHV_HUMAN_GENOMES ss3807691467 Jul 13, 2019 (153)
70 EVA ss3824151462 Apr 26, 2020 (154)
71 EVA ss3825688673 Apr 26, 2020 (154)
72 EVA ss3829695974 Apr 26, 2020 (154)
73 EVA ss3838322501 Apr 26, 2020 (154)
74 EVA ss3843762296 Apr 26, 2020 (154)
75 SGDP_PRJ ss3863780434 Apr 26, 2020 (154)
76 KRGDB ss3910513527 Apr 26, 2020 (154)
77 KOGIC ss3958373105 Apr 26, 2020 (154)
78 KOGIC ss3958373106 Apr 26, 2020 (154)
79 FSA-LAB ss3984327448 Apr 26, 2021 (155)
80 FSA-LAB ss3984327449 Apr 26, 2021 (155)
81 EVA ss3986334134 Apr 26, 2021 (155)
82 TOPMED ss4691540223 Apr 26, 2021 (155)
83 TOMMO_GENOMICS ss5175869343 Apr 26, 2021 (155)
84 TOMMO_GENOMICS ss5175869344 Apr 26, 2021 (155)
85 1000G_HIGH_COVERAGE ss5267171881 Oct 13, 2022 (156)
86 HUGCELL_USP ss5464987186 Oct 13, 2022 (156)
87 1000G_HIGH_COVERAGE ss5552491601 Oct 13, 2022 (156)
88 EVA ss5623934514 Oct 13, 2022 (156)
89 EVA ss5624153979 Oct 13, 2022 (156)
90 SANFORD_IMAGENETICS ss5639635494 Oct 13, 2022 (156)
91 TOMMO_GENOMICS ss5713451629 Oct 13, 2022 (156)
92 TOMMO_GENOMICS ss5713451630 Oct 13, 2022 (156)
93 EVA ss5799427282 Oct 13, 2022 (156)
94 EVA ss5800126823 Oct 13, 2022 (156)
95 YY_MCH ss5807094167 Oct 13, 2022 (156)
96 EVA ss5841702070 Oct 13, 2022 (156)
97 EVA ss5848644314 Oct 13, 2022 (156)
98 EVA ss5855173316 Oct 13, 2022 (156)
99 EVA ss5882391246 Oct 13, 2022 (156)
100 EVA ss5968128477 Oct 13, 2022 (156)
101 EVA ss5980338664 Oct 13, 2022 (156)
102 EVA ss5981232704 Oct 13, 2022 (156)
103 1000Genomes NC_000006.11 - 2836266 Oct 12, 2018 (152)
104 1000Genomes_30x NC_000006.12 - 2836032 Oct 13, 2022 (156)
105 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 2836266 Oct 12, 2018 (152)
106 Genetic variation in the Estonian population NC_000006.11 - 2836266 Oct 12, 2018 (152)
107 ExAC

Submission ignored due to conflicting rows:
Row 8157011 (NC_000006.11:2836265:T:T 52324/121260, NC_000006.11:2836265:T:A 68936/121260)
Row 8157012 (NC_000006.11:2836265:T:T 121259/121260, NC_000006.11:2836265:T:G 1/121260)

- Oct 12, 2018 (152)
108 ExAC

Submission ignored due to conflicting rows:
Row 8157011 (NC_000006.11:2836265:T:T 52324/121260, NC_000006.11:2836265:T:A 68936/121260)
Row 8157012 (NC_000006.11:2836265:T:T 121259/121260, NC_000006.11:2836265:T:G 1/121260)

- Oct 12, 2018 (152)
109 FINRISK NC_000006.11 - 2836266 Apr 26, 2020 (154)
110 The Danish reference pan genome NC_000006.11 - 2836266 Apr 26, 2020 (154)
111 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 215288881 (NC_000006.12:2836031:T:A 75447/139954)
Row 215288882 (NC_000006.12:2836031:T:G 1/140024)

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

Submission ignored due to conflicting rows:
Row 215288881 (NC_000006.12:2836031:T:A 75447/139954)
Row 215288882 (NC_000006.12:2836031:T:G 1/140024)

- Apr 26, 2021 (155)
113 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 4645083 (NC_000006.11:2836265:T:T 106736/251048, NC_000006.11:2836265:T:A 144312/251048)
Row 4645084 (NC_000006.11:2836265:T:T 251039/251048, NC_000006.11:2836265:T:G 9/251048)

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

Submission ignored due to conflicting rows:
Row 4645083 (NC_000006.11:2836265:T:T 106736/251048, NC_000006.11:2836265:T:A 144312/251048)
Row 4645084 (NC_000006.11:2836265:T:T 251039/251048, NC_000006.11:2836265:T:G 9/251048)

- Jul 13, 2019 (153)
115 GO Exome Sequencing Project NC_000006.11 - 2836266 Oct 12, 2018 (152)
116 Genome of the Netherlands Release 5 NC_000006.11 - 2836266 Apr 26, 2020 (154)
117 HapMap NC_000006.12 - 2836032 Apr 26, 2020 (154)
118 KOREAN population from KRGDB NC_000006.11 - 2836266 Apr 26, 2020 (154)
119 Korean Genome Project

Submission ignored due to conflicting rows:
Row 14751106 (NC_000006.12:2836031:T:A 1114/1832)
Row 14751107 (NC_000006.12:2836031:T:G 1/1832)

- Apr 26, 2020 (154)
120 Korean Genome Project

Submission ignored due to conflicting rows:
Row 14751106 (NC_000006.12:2836031:T:A 1114/1832)
Row 14751107 (NC_000006.12:2836031:T:G 1/1832)

- Apr 26, 2020 (154)
121 Medical Genome Project healthy controls from Spanish population NC_000006.11 - 2836266 Apr 26, 2020 (154)
122 Northern Sweden NC_000006.11 - 2836266 Jul 13, 2019 (153)
123 Qatari NC_000006.11 - 2836266 Apr 26, 2020 (154)
124 SGDP_PRJ NC_000006.11 - 2836266 Apr 26, 2020 (154)
125 Siberian NC_000006.11 - 2836266 Apr 26, 2020 (154)
126 8.3KJPN

Submission ignored due to conflicting rows:
Row 33838650 (NC_000006.11:2836265:T:A 9432/16760)
Row 33838651 (NC_000006.11:2836265:T:G 5/16760)

- Apr 26, 2021 (155)
127 8.3KJPN

Submission ignored due to conflicting rows:
Row 33838650 (NC_000006.11:2836265:T:A 9432/16760)
Row 33838651 (NC_000006.11:2836265:T:G 5/16760)

- Apr 26, 2021 (155)
128 14KJPN

Submission ignored due to conflicting rows:
Row 47288733 (NC_000006.12:2836031:T:A 15842/28258)
Row 47288734 (NC_000006.12:2836031:T:G 8/28258)

- Oct 13, 2022 (156)
129 14KJPN

Submission ignored due to conflicting rows:
Row 47288733 (NC_000006.12:2836031:T:A 15842/28258)
Row 47288734 (NC_000006.12:2836031:T:G 8/28258)

- Oct 13, 2022 (156)
130 TopMed NC_000006.12 - 2836032 Apr 26, 2021 (155)
131 UK 10K study - Twins NC_000006.11 - 2836266 Oct 12, 2018 (152)
132 A Vietnamese Genetic Variation Database NC_000006.11 - 2836266 Jul 13, 2019 (153)
133 ALFA NC_000006.12 - 2836032 Apr 26, 2021 (155)
134 ClinVar RCV001648384.2 Oct 13, 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)
rs56560472 May 25, 2008 (130)
rs58924038 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83926925 NC_000006.9:2781264:T:A NC_000006.12:2836031:T:A (self)
ss76542465, ss93369924, ss109698975, ss116272149, ss161964891, ss163061875, ss166028775, ss201331147, ss211773493, ss253988584, ss278626296, ss285326996, ss293584744, ss491879899, ss1592060351, ss1712829910 NC_000006.10:2781264:T:A NC_000006.12:2836031:T:A (self)
30445797, 16946078, 12071685, 39897, 7668971, 609519, 7521753, 17690921, 226056, 6429207, 7813929, 15797414, 4178686, 16946078, 3753147, ss222170209, ss233295844, ss240387372, ss490918566, ss535380785, ss558957382, ss652869301, ss712687955, ss982514718, ss1067474887, ss1073328763, ss1318713584, ss1430615797, ss1581504032, ss1584043436, ss1614809245, ss1657803278, ss1688139785, ss1711110296, ss1804248412, ss1925771999, ss1970294104, ss2023500485, ss2151662332, ss2626238500, ss2707246968, ss2735510014, ss2747537810, ss2835075775, ss2998410223, ss3346803870, ss3629427771, ss3646330022, ss3666333437, ss3733144342, ss3764530628, ss3785353435, ss3790721596, ss3795598747, ss3824151462, ss3825688673, ss3829695974, ss3838322501, ss3863780434, ss3910513527, ss3984327448, ss3984327449, ss3986334134, ss5175869343, ss5623934514, ss5624153979, ss5639635494, ss5799427282, ss5800126823, ss5841702070, ss5848644314, ss5968128477, ss5980338664, ss5981232704 NC_000006.11:2836265:T:A NC_000006.12:2836031:T:A (self)
RCV001648384.2, 40017536, 3045671, 528917781, 267460889, ss2281263494, ss3025533692, ss3648253195, ss3716452750, ss3807691467, ss3843762296, ss3958373105, ss4691540223, ss5267171881, ss5464987186, ss5552491601, ss5713451629, ss5807094167, ss5855173316, ss5882391246 NC_000006.12:2836031:T:A NC_000006.12:2836031:T:A (self)
ss497377, ss3236923, ss44765792, ss104272625, ss143688483 NT_007592.15:2776265:T:A NC_000006.12:2836031:T:A (self)
ss14800813, ss22406102 NT_034880.3:2776264:T:A NC_000006.12:2836031:T:A (self)
17690921, ss3910513527 NC_000006.11:2836265:T:C NC_000006.12:2836031:T:C (self)
17690921, ss1688139786, ss2735510014, ss2747537810, ss2835075775, ss3910513527, ss5175869344 NC_000006.11:2836265:T:G NC_000006.12:2836031:T:G (self)
267460889, ss3958373106, ss5713451630 NC_000006.12:2836031:T:G NC_000006.12:2836031:T:G (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 rs385955

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.post820+afb47a3d