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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.

rs383711

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr6:33206221 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.097431 (25789/264690, TOPMED)
A=0.106266 (25809/242872, GnomAD_exome)
A=0.087997 (12335/140176, GnomAD) (+ 20 more)
A=0.070562 (8639/122432, ALFA)
A=0.105679 (12119/114678, ExAC)
G=0.44499 (7458/16760, 8.3KJPN)
A=0.0740 (618/8356, GO-ESP)
A=0.1751 (877/5008, 1000G)
A=0.0500 (224/4480, Estonian)
A=0.0791 (305/3854, ALSPAC)
A=0.0653 (242/3708, TWINSUK)
A=0.4901 (1436/2930, KOREAN)
A=0.1868 (353/1890, HapMap)
A=0.063 (63/998, GoNL)
A=0.043 (26/600, NorthernSweden)
A=0.124 (66/534, MGP)
A=0.060 (13/216, Qatari)
A=0.429 (91/212, Vietnamese)
G=0.380 (57/150, SGDP_PRJ)
A=0.09 (6/66, Ancient Sardinia)
A=0.07 (3/40, GENOME_DK)
G=0.5 (5/10, Siberian)
A=0.5 (5/10, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
HSD17B8 : Intron Variant
MIR219A1 : 2KB Upstream Variant
Publications
2 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 6 NC_000006.12:g.33206221G>A
GRCh38.p13 chr 6 NC_000006.12:g.33206221G>C
GRCh37.p13 chr 6 NC_000006.11:g.33173998G>A
GRCh37.p13 chr 6 NC_000006.11:g.33173998G>C
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4617722G>A
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4617722G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4617828G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4617828G>C
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.4400629G>A
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.4400629G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.4406225G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.4406225G>C
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.4449720G>A
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.4449720G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.4455305G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.4455305G>C
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4625698G>A
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4625698G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4631318G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4631318G>C
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.4642174G>A
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.4642174G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.4647759G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.4647759G>C
Gene: HSD17B8, hydroxysteroid 17-beta dehydrogenase 8 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
HSD17B8 transcript NM_014234.5:c.694+45G>A N/A Intron Variant
Gene: MIR219A1, microRNA 219a-1 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR219A1 transcript NR_029633.1:n. N/A Upstream 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 122432 G=0.929438 A=0.070562, C=0.000000
European Sub 102670 G=0.933866 A=0.066134, C=0.000000
African Sub 5662 G=0.9175 A=0.0825, C=0.0000
African Others Sub 186 G=0.876 A=0.124, C=0.000
African American Sub 5476 G=0.9189 A=0.0811, C=0.0000
Asian Sub 556 G=0.518 A=0.482, C=0.000
East Asian Sub 458 G=0.515 A=0.485, C=0.000
Other Asian Sub 98 G=0.53 A=0.47, C=0.00
Latin American 1 Sub 378 G=0.902 A=0.098, C=0.000
Latin American 2 Sub 5578 G=0.9156 A=0.0844, C=0.0000
South Asian Sub 170 G=0.912 A=0.088, C=0.000
Other Sub 7418 G=0.9203 A=0.0797, C=0.0000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.902569 A=0.097431
gnomAD - Exomes Global Study-wide 242872 G=0.893734 A=0.106266
gnomAD - Exomes European Sub 130890 G=0.929834 A=0.070166
gnomAD - Exomes Asian Sub 48256 G=0.75383 A=0.24617
gnomAD - Exomes American Sub 33784 G=0.92491 A=0.07509
gnomAD - Exomes African Sub 14218 G=0.91173 A=0.08827
gnomAD - Exomes Ashkenazi Jewish Sub 9792 G=0.9551 A=0.0449
gnomAD - Exomes Other Sub 5932 G=0.9134 A=0.0866
gnomAD - Genomes Global Study-wide 140176 G=0.912003 A=0.087997
gnomAD - Genomes European Sub 75920 G=0.92921 A=0.07079
gnomAD - Genomes African Sub 41996 G=0.91004 A=0.08996
gnomAD - Genomes American Sub 13662 G=0.91839 A=0.08161
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.9560 A=0.0440
gnomAD - Genomes East Asian Sub 3128 G=0.4706 A=0.5294
gnomAD - Genomes Other Sub 2152 G=0.8764 A=0.1236
ExAC Global Study-wide 114678 G=0.894321 A=0.105679
ExAC Europe Sub 69350 G=0.93178 A=0.06822
ExAC Asian Sub 24534 G=0.76604 A=0.23396
ExAC American Sub 11406 G=0.92618 A=0.07382
ExAC African Sub 8520 G=0.9148 A=0.0852
ExAC Other Sub 868 G=0.908 A=0.092
8.3KJPN JAPANESE Study-wide 16760 G=0.44499 A=0.55501
GO Exome Sequencing Project Global Study-wide 8356 G=0.9260 A=0.0740
GO Exome Sequencing Project European American Sub 5396 G=0.9309 A=0.0691
GO Exome Sequencing Project African American Sub 2960 G=0.9172 A=0.0828
1000Genomes Global Study-wide 5008 G=0.8249 A=0.1751
1000Genomes African Sub 1322 G=0.9039 A=0.0961
1000Genomes East Asian Sub 1008 G=0.5079 A=0.4921
1000Genomes Europe Sub 1006 G=0.9026 A=0.0974
1000Genomes South Asian Sub 978 G=0.897 A=0.103
1000Genomes American Sub 694 G=0.921 A=0.079
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9500 A=0.0500
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9209 A=0.0791
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9347 A=0.0653
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.5099 A=0.4901
HapMap Global Study-wide 1890 G=0.8132 A=0.1868
HapMap American Sub 768 G=0.810 A=0.190
HapMap African Sub 692 G=0.908 A=0.092
HapMap Asian Sub 254 G=0.496 A=0.504
HapMap Europe Sub 176 G=0.915 A=0.085
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.937 A=0.063
Northern Sweden ACPOP Study-wide 600 G=0.957 A=0.043
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.876 A=0.124
Qatari Global Study-wide 216 G=0.940 A=0.060
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.571 A=0.429
SGDP_PRJ Global Study-wide 150 G=0.380 A=0.620
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 66 G=0.91 A=0.09
The Danish reference pan genome Danish Study-wide 40 G=0.93 A=0.07
Siberian Global Study-wide 10 G=0.5 A=0.5
Help

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

Placement G= A C
GRCh38.p13 chr 6 NC_000006.12:g.33206221= NC_000006.12:g.33206221G>A NC_000006.12:g.33206221G>C
GRCh37.p13 chr 6 NC_000006.11:g.33173998= NC_000006.11:g.33173998G>A NC_000006.11:g.33173998G>C
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4617722= NT_113891.3:g.4617722G>A NT_113891.3:g.4617722G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4617828= NT_113891.2:g.4617828G>A NT_113891.2:g.4617828G>C
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.4400629= NT_167248.2:g.4400629G>A NT_167248.2:g.4400629G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.4406225= NT_167248.1:g.4406225G>A NT_167248.1:g.4406225G>C
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.4449720= NT_167245.2:g.4449720G>A NT_167245.2:g.4449720G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.4455305= NT_167245.1:g.4455305G>A NT_167245.1:g.4455305G>C
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4625698= NT_167246.2:g.4625698G>A NT_167246.2:g.4625698G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4631318= NT_167246.1:g.4631318G>A NT_167246.1:g.4631318G>C
GRCh38.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.4642174= NT_167247.2:g.4642174G>A NT_167247.2:g.4642174G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.4647759= NT_167247.1:g.4647759G>A NT_167247.1:g.4647759G>C
HSD17B8 transcript NM_014234.4:c.694+45= NM_014234.4:c.694+45G>A NM_014234.4:c.694+45G>C
HSD17B8 transcript NM_014234.5:c.694+45= NM_014234.5:c.694+45G>A NM_014234.5:c.694+45G>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#.

99 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss493715 Jul 16, 2000 (80)
2 YUSUKE ss2991683 Jun 15, 2001 (96)
3 TSC-CSHL ss3115939 Jun 15, 2001 (96)
4 TSC-CSHL ss5230771 Oct 10, 2002 (117)
5 SC_SNP ss12889464 Dec 05, 2003 (119)
6 SC_SNP ss15751474 Feb 27, 2004 (120)
7 ABI ss44736632 Mar 14, 2006 (126)
8 KRIBB_YJKIM ss65841278 Nov 30, 2006 (127)
9 ILLUMINA ss75213194 Dec 06, 2007 (129)
10 HGSV ss83424896 Dec 14, 2007 (130)
11 KRIBB_YJKIM ss119352287 Dec 01, 2009 (131)
12 ILLUMINA ss152536398 Dec 01, 2009 (131)
13 GMI ss156783695 Dec 01, 2009 (131)
14 ILLUMINA ss159102633 Dec 01, 2009 (131)
15 ILLUMINA ss160649308 Dec 01, 2009 (131)
16 ILLUMINA ss168870912 Jul 04, 2010 (132)
17 ILLUMINA ss173658667 Jul 04, 2010 (132)
18 1000GENOMES ss222323890 Jul 14, 2010 (137)
19 1000GENOMES ss233421508 Jul 14, 2010 (137)
20 1000GENOMES ss240487674 Jul 15, 2010 (137)
21 ILLUMINA ss244297913 Jul 04, 2010 (132)
22 GMI ss278746421 May 04, 2012 (137)
23 PJP ss293833599 May 09, 2011 (137)
24 ILLUMINA ss480856740 May 04, 2012 (137)
25 ILLUMINA ss480874959 May 04, 2012 (137)
26 ILLUMINA ss481811881 Sep 08, 2015 (146)
27 ILLUMINA ss485223374 May 04, 2012 (137)
28 ILLUMINA ss537202093 Sep 08, 2015 (146)
29 SSMP ss653059117 Apr 25, 2013 (138)
30 NHLBI-ESP ss712702983 Apr 25, 2013 (138)
31 ILLUMINA ss778898814 Sep 08, 2015 (146)
32 ILLUMINA ss783057643 Sep 08, 2015 (146)
33 ILLUMINA ss784015828 Sep 08, 2015 (146)
34 ILLUMINA ss832315563 Sep 08, 2015 (146)
35 ILLUMINA ss832615429 Jul 13, 2019 (153)
36 ILLUMINA ss834360038 Sep 08, 2015 (146)
37 EVA-GONL ss982794399 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1073517979 Aug 21, 2014 (142)
39 1000GENOMES ss1319615595 Aug 21, 2014 (142)
40 EVA_GENOME_DK ss1581619686 Apr 01, 2015 (144)
41 EVA_DECODE ss1592327244 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1615302072 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1658296105 Apr 01, 2015 (144)
44 EVA_EXAC ss1688266705 Apr 01, 2015 (144)
45 EVA_MGP ss1711125332 Apr 01, 2015 (144)
46 EVA_SVP ss1712853611 Apr 01, 2015 (144)
47 ILLUMINA ss1752632629 Sep 08, 2015 (146)
48 WEILL_CORNELL_DGM ss1926052462 Feb 12, 2016 (147)
49 JJLAB ss2023663111 Sep 14, 2016 (149)
50 ILLUMINA ss2094827316 Dec 20, 2016 (150)
51 ILLUMINA ss2095181298 Dec 20, 2016 (150)
52 USC_VALOUEV ss2151839029 Dec 20, 2016 (150)
53 HUMAN_LONGEVITY ss2283020690 Dec 20, 2016 (150)
54 TOPMED ss2451403564 Dec 20, 2016 (150)
55 SYSTEMSBIOZJU ss2626319907 Nov 08, 2017 (151)
56 ILLUMINA ss2634436345 Nov 08, 2017 (151)
57 GRF ss2707434172 Nov 08, 2017 (151)
58 ILLUMINA ss2711073474 Nov 08, 2017 (151)
59 GNOMAD ss2735704850 Nov 08, 2017 (151)
60 GNOMAD ss2747598908 Nov 08, 2017 (151)
61 GNOMAD ss2837558267 Nov 08, 2017 (151)
62 AFFY ss2985997195 Nov 08, 2017 (151)
63 SWEGEN ss2998852680 Nov 08, 2017 (151)
64 ILLUMINA ss3022608684 Nov 08, 2017 (151)
65 BIOINF_KMB_FNS_UNIBA ss3025623652 Nov 08, 2017 (151)
66 TOPMED ss3494138191 Nov 08, 2017 (151)
67 ILLUMINA ss3629516918 Oct 12, 2018 (152)
68 ILLUMINA ss3632354054 Oct 12, 2018 (152)
69 ILLUMINA ss3633417548 Oct 12, 2018 (152)
70 ILLUMINA ss3634140190 Oct 12, 2018 (152)
71 ILLUMINA ss3635060951 Oct 12, 2018 (152)
72 ILLUMINA ss3635821109 Oct 12, 2018 (152)
73 ILLUMINA ss3636783738 Oct 12, 2018 (152)
74 ILLUMINA ss3637573910 Oct 12, 2018 (152)
75 ILLUMINA ss3638622975 Oct 12, 2018 (152)
76 ILLUMINA ss3638622976 Oct 12, 2018 (152)
77 ILLUMINA ss3640768250 Oct 12, 2018 (152)
78 ILLUMINA ss3643564534 Oct 12, 2018 (152)
79 OMUKHERJEE_ADBS ss3646337229 Oct 12, 2018 (152)
80 ILLUMINA ss3653123169 Oct 12, 2018 (152)
81 EGCUT_WGS ss3666739819 Jul 13, 2019 (153)
82 EVA_DECODE ss3716952082 Jul 13, 2019 (153)
83 ILLUMINA ss3726335949 Jul 13, 2019 (153)
84 ACPOP ss3733389754 Jul 13, 2019 (153)
85 ILLUMINA ss3745360890 Jul 13, 2019 (153)
86 EVA ss3764855904 Jul 13, 2019 (153)
87 ILLUMINA ss3772854546 Jul 13, 2019 (153)
88 KHV_HUMAN_GENOMES ss3808012412 Jul 13, 2019 (153)
89 EVA ss3824176545 Apr 26, 2020 (154)
90 EVA ss3829856762 Apr 26, 2020 (154)
91 SGDP_PRJ ss3864315617 Apr 26, 2020 (154)
92 KRGDB ss3911093251 Apr 26, 2020 (154)
93 EVA ss3985215599 Apr 26, 2021 (155)
94 EVA ss4017268750 Apr 26, 2021 (155)
95 VINODS ss4025217048 Apr 26, 2021 (155)
96 VINODS ss4025254272 Apr 26, 2021 (155)
97 VINODS ss4025275998 Apr 26, 2021 (155)
98 TOPMED ss4698690869 Apr 26, 2021 (155)
99 TOMMO_GENOMICS ss5176931127 Apr 26, 2021 (155)
100 1000Genomes NC_000006.11 - 33173998 Oct 12, 2018 (152)
101 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 33173998 Oct 12, 2018 (152)
102 Genetic variation in the Estonian population NC_000006.11 - 33173998 Oct 12, 2018 (152)
103 ExAC NC_000006.11 - 33173998 Oct 12, 2018 (152)
104 The Danish reference pan genome NC_000006.11 - 33173998 Apr 26, 2020 (154)
105 gnomAD - Genomes NC_000006.12 - 33206221 Apr 26, 2021 (155)
106 gnomAD - Exomes NC_000006.11 - 33173998 Jul 13, 2019 (153)
107 GO Exome Sequencing Project NC_000006.11 - 33173998 Oct 12, 2018 (152)
108 Genome of the Netherlands Release 5 NC_000006.11 - 33173998 Apr 26, 2020 (154)
109 HapMap NC_000006.12 - 33206221 Apr 26, 2020 (154)
110 KOREAN population from KRGDB NC_000006.11 - 33173998 Apr 26, 2020 (154)
111 Medical Genome Project healthy controls from Spanish population NC_000006.11 - 33173998 Apr 26, 2020 (154)
112 Northern Sweden NC_000006.11 - 33173998 Jul 13, 2019 (153)
113 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000006.11 - 33173998 Apr 26, 2021 (155)
114 Qatari NC_000006.11 - 33173998 Apr 26, 2020 (154)
115 SGDP_PRJ NC_000006.11 - 33173998 Apr 26, 2020 (154)
116 Siberian NC_000006.11 - 33173998 Apr 26, 2020 (154)
117 8.3KJPN NC_000006.11 - 33173998 Apr 26, 2021 (155)
118 TopMed NC_000006.12 - 33206221 Apr 26, 2021 (155)
119 UK 10K study - Twins NC_000006.11 - 33173998 Oct 12, 2018 (152)
120 A Vietnamese Genetic Variation Database NC_000006.11 - 33173998 Jul 13, 2019 (153)
121 ALFA NC_000006.12 - 33206221 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)
rs3948809 Aug 27, 2003 (117)
rs56774526 May 23, 2008 (130)
rs114777152 May 04, 2012 (137)
rs117562572 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83424896 NC_000006.9:33281975:G:A NC_000006.12:33206220:G:A (self)
ss278746421, ss293833599, ss480856740, ss1592327244, ss1712853611, ss3643564534 NC_000006.10:33281975:G:A NC_000006.12:33206220:G:A (self)
31385243, 17494719, 12478067, 8295017, 7784625, 4846465, 634572, 7788575, 18270645, 241092, 6674619, 441526, 8094392, 16332597, 4355383, 34900434, 17494719, 3884792, ss222323890, ss233421508, ss240487674, ss480874959, ss481811881, ss485223374, ss537202093, ss653059117, ss712702983, ss778898814, ss783057643, ss784015828, ss832315563, ss832615429, ss834360038, ss982794399, ss1073517979, ss1319615595, ss1581619686, ss1615302072, ss1658296105, ss1688266705, ss1711125332, ss1752632629, ss1926052462, ss2023663111, ss2094827316, ss2095181298, ss2151839029, ss2451403564, ss2626319907, ss2634436345, ss2707434172, ss2711073474, ss2735704850, ss2747598908, ss2837558267, ss2985997195, ss2998852680, ss3022608684, ss3629516918, ss3632354054, ss3633417548, ss3634140190, ss3635060951, ss3635821109, ss3636783738, ss3637573910, ss3638622975, ss3638622976, ss3640768250, ss3646337229, ss3653123169, ss3666739819, ss3733389754, ss3745360890, ss3764855904, ss3772854546, ss3824176545, ss3829856762, ss3864315617, ss3911093251, ss3985215599, ss4017268750, ss5176931127 NC_000006.11:33173997:G:A NC_000006.12:33206220:G:A (self)
221528694, 3105181, 335230936, 536068427, 9714554841, ss2283020690, ss3025623652, ss3494138191, ss3716952082, ss3726335949, ss3808012412, ss4698690869 NC_000006.12:33206220:G:A NC_000006.12:33206220:G:A (self)
ss15751474 NT_007592.13:23971156:G:A NC_000006.12:33206220:G:A (self)
ss493715, ss2991683, ss3115939, ss5230771, ss44736632, ss65841278, ss75213194, ss119352287, ss152536398, ss156783695, ss159102633, ss160649308, ss168870912, ss173658667, ss244297913 NT_007592.15:33113997:G:A NC_000006.12:33206220:G:A (self)
ss12889464 NT_033951.3:4554154:G:A NC_000006.12:33206220:G:A (self)
ss4025217048 NT_167245.2:4449719:G:A NC_000006.12:33206220:G:A
ss4025254272 NT_167247.2:4642173:G:A NC_000006.12:33206220:G:A
ss4025275998 NT_167248.2:4400628:G:A NC_000006.12:33206220:G:A
9714554841 NC_000006.12:33206220:G:C NC_000006.12:33206220:G:C
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs383711
PMID Title Author Year Journal
19851445 High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. Barcellos LF et al. 2009 PLoS genetics
21695597 MHC region and risk of systemic lupus erythematosus in African American women. Ruiz-Narvaez EA et al. 2011 Human genetics
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