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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.

rs6045411

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:18453214 (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
C=0.154853 (40988/264690, TOPMED)
C=0.148956 (20869/140102, GnomAD)
C=0.12807 (3619/28258, 14KJPN) (+ 16 more)
C=0.14355 (3688/25692, ALFA)
C=0.12745 (2136/16760, 8.3KJPN)
C=0.1448 (927/6404, 1000G_30x)
C=0.1428 (715/5008, 1000G)
C=0.1261 (565/4480, Estonian)
C=0.1035 (399/3854, ALSPAC)
C=0.1165 (432/3708, TWINSUK)
C=0.1662 (487/2930, KOREAN)
C=0.1788 (338/1890, HapMap)
C=0.097 (97/998, GoNL)
C=0.082 (49/600, NorthernSweden)
C=0.131 (71/542, SGDP_PRJ)
C=0.153 (33/216, Qatari)
C=0.113 (24/212, Vietnamese)
C=0.04 (2/54, Siberian)
C=0.15 (6/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DZANK1 : 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 25692 C=0.14355 T=0.85645
European Sub 17394 C=0.11820 T=0.88180
African Sub 3622 C=0.2062 T=0.7938
African Others Sub 126 C=0.254 T=0.746
African American Sub 3496 C=0.2045 T=0.7955
Asian Sub 160 C=0.138 T=0.863
East Asian Sub 102 C=0.157 T=0.843
Other Asian Sub 58 C=0.10 T=0.90
Latin American 1 Sub 292 C=0.192 T=0.808
Latin American 2 Sub 2768 C=0.2059 T=0.7941
South Asian Sub 110 C=0.064 T=0.936
Other Sub 1346 C=0.1709 T=0.8291


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=0.154853 T=0.845147
gnomAD - Genomes Global Study-wide 140102 C=0.148956 T=0.851044
gnomAD - Genomes European Sub 75902 C=0.11673 T=0.88327
gnomAD - Genomes African Sub 41950 C=0.19139 T=0.80861
gnomAD - Genomes American Sub 13650 C=0.19048 T=0.80952
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.1634 T=0.8366
gnomAD - Genomes East Asian Sub 3126 C=0.1708 T=0.8292
gnomAD - Genomes Other Sub 2150 C=0.1409 T=0.8591
14KJPN JAPANESE Study-wide 28258 C=0.12807 T=0.87193
Allele Frequency Aggregator Total Global 25692 C=0.14355 T=0.85645
Allele Frequency Aggregator European Sub 17394 C=0.11820 T=0.88180
Allele Frequency Aggregator African Sub 3622 C=0.2062 T=0.7938
Allele Frequency Aggregator Latin American 2 Sub 2768 C=0.2059 T=0.7941
Allele Frequency Aggregator Other Sub 1346 C=0.1709 T=0.8291
Allele Frequency Aggregator Latin American 1 Sub 292 C=0.192 T=0.808
Allele Frequency Aggregator Asian Sub 160 C=0.138 T=0.863
Allele Frequency Aggregator South Asian Sub 110 C=0.064 T=0.936
8.3KJPN JAPANESE Study-wide 16760 C=0.12745 T=0.87255
1000Genomes_30x Global Study-wide 6404 C=0.1448 T=0.8552
1000Genomes_30x African Sub 1786 C=0.2156 T=0.7844
1000Genomes_30x Europe Sub 1266 C=0.1098 T=0.8902
1000Genomes_30x South Asian Sub 1202 C=0.0358 T=0.9642
1000Genomes_30x East Asian Sub 1170 C=0.1530 T=0.8470
1000Genomes_30x American Sub 980 C=0.185 T=0.815
1000Genomes Global Study-wide 5008 C=0.1428 T=0.8572
1000Genomes African Sub 1322 C=0.2186 T=0.7814
1000Genomes East Asian Sub 1008 C=0.1548 T=0.8452
1000Genomes Europe Sub 1006 C=0.1113 T=0.8887
1000Genomes South Asian Sub 978 C=0.037 T=0.963
1000Genomes American Sub 694 C=0.176 T=0.824
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.1261 T=0.8739
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.1035 T=0.8965
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.1165 T=0.8835
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.1662 G=0.0000, T=0.8338
HapMap Global Study-wide 1890 C=0.1788 T=0.8212
HapMap American Sub 768 C=0.122 T=0.878
HapMap African Sub 692 C=0.264 T=0.736
HapMap Asian Sub 254 C=0.157 T=0.843
HapMap Europe Sub 176 C=0.119 T=0.881
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.097 T=0.903
Northern Sweden ACPOP Study-wide 600 C=0.082 T=0.918
SGDP_PRJ Global Study-wide 542 C=0.131 T=0.869
Qatari Global Study-wide 216 C=0.153 T=0.847
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.113 T=0.887
Siberian Global Study-wide 54 C=0.04 T=0.96
The Danish reference pan genome Danish Study-wide 40 C=0.15 T=0.85
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 20 NC_000020.11:g.18453214C>G
GRCh38.p14 chr 20 NC_000020.11:g.18453214C>T
GRCh37.p13 chr 20 NC_000020.10:g.18433858C>G
GRCh37.p13 chr 20 NC_000020.10:g.18433858C>T
Gene: DZANK1, double zinc ribbon and ankyrin repeat domains 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DZANK1 transcript variant 3 NM_001099407.2:c.475+517G…

NM_001099407.2:c.475+517G>C

N/A Intron Variant
DZANK1 transcript variant 1 NM_001351683.4:c.476-475G…

NM_001351683.4:c.476-475G>C

N/A Intron Variant
DZANK1 transcript variant 2 NM_001351684.2:c.476-475G…

NM_001351684.2:c.476-475G>C

N/A Intron Variant
DZANK1 transcript variant 5 NM_001367611.1:c.475+517G…

NM_001367611.1:c.475+517G>C

N/A Intron Variant
DZANK1 transcript variant 6 NM_001367612.1:c.475+517G…

NM_001367612.1:c.475+517G>C

N/A Intron Variant
DZANK1 transcript variant 7 NM_001367613.1:c.475+517G…

NM_001367613.1:c.475+517G>C

N/A Intron Variant
DZANK1 transcript variant 8 NM_001367614.1:c.476-475G…

NM_001367614.1:c.476-475G>C

N/A Intron Variant
DZANK1 transcript variant 11 NM_001367617.1:c.476-475G…

NM_001367617.1:c.476-475G>C

N/A Intron Variant
DZANK1 transcript variant 12 NM_001367618.1:c.476-475G…

NM_001367618.1:c.476-475G>C

N/A Intron Variant
DZANK1 transcript variant 13 NM_001367619.1:c.24+517G>C N/A Intron Variant
DZANK1 transcript variant 4 NM_018152.3:c.24+517G>C N/A Intron Variant
DZANK1 transcript variant 9 NR_160273.1:n. N/A Intron Variant
DZANK1 transcript variant 10 NR_160274.1:n. N/A Intron Variant
DZANK1 transcript variant X13 XM_006723584.3:c.475+517G…

XM_006723584.3:c.475+517G>C

N/A Intron Variant
DZANK1 transcript variant X1 XM_011529268.3:c.503-475G…

XM_011529268.3:c.503-475G>C

N/A Intron Variant
DZANK1 transcript variant X4 XM_011529272.3:c.476-475G…

XM_011529272.3:c.476-475G>C

N/A Intron Variant
DZANK1 transcript variant X3 XM_017027910.2:c.476-475G…

XM_017027910.2:c.476-475G>C

N/A Intron Variant
DZANK1 transcript variant X2 XM_017027911.2:c.476-475G…

XM_017027911.2:c.476-475G>C

N/A Intron Variant
DZANK1 transcript variant X5 XM_017027912.3:c.511+517G…

XM_017027912.3:c.511+517G>C

N/A Intron Variant
DZANK1 transcript variant X7 XM_017027913.3:c.511+517G…

XM_017027913.3:c.511+517G>C

N/A Intron Variant
DZANK1 transcript variant X10 XM_017027915.3:c.475+517G…

XM_017027915.3:c.475+517G>C

N/A Intron Variant
DZANK1 transcript variant X12 XM_017027916.3:c.511+517G…

XM_017027916.3:c.511+517G>C

N/A Intron Variant
DZANK1 transcript variant X14 XM_024451934.2:c.24+517G>C N/A Intron Variant
DZANK1 transcript variant X6 XM_047440248.1:c.476-475G…

XM_047440248.1:c.476-475G>C

N/A Intron Variant
DZANK1 transcript variant X8 XM_047440249.1:c.502+517G…

XM_047440249.1:c.502+517G>C

N/A Intron Variant
DZANK1 transcript variant X9 XM_047440250.1:c.502+517G…

XM_047440250.1:c.502+517G>C

N/A Intron Variant
DZANK1 transcript variant X11 XM_047440251.1:c.475+517G…

XM_047440251.1:c.475+517G>C

N/A Intron Variant
DZANK1 transcript variant X15 XM_047440252.1:c.24+517G>C N/A Intron Variant
DZANK1 transcript variant X19 XM_047440253.1:c.475+517G…

XM_047440253.1:c.475+517G>C

N/A Intron Variant
DZANK1 transcript variant X18 XM_011529277.3:c. N/A Genic Upstream Transcript Variant
DZANK1 transcript variant X17 XM_017027921.3:c. N/A Genic Upstream Transcript Variant
DZANK1 transcript variant X16 XR_007067462.1: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.

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 20 NC_000020.11:g.18453214= NC_000020.11:g.18453214C>G NC_000020.11:g.18453214C>T
GRCh37.p13 chr 20 NC_000020.10:g.18433858= NC_000020.10:g.18433858C>G NC_000020.10:g.18433858C>T
DZANK1 transcript variant 3 NM_001099407.1:c.475+517= NM_001099407.1:c.475+517G>C NM_001099407.1:c.475+517G>A
DZANK1 transcript variant 3 NM_001099407.2:c.475+517= NM_001099407.2:c.475+517G>C NM_001099407.2:c.475+517G>A
DZANK1 transcript variant 1 NM_001351683.4:c.476-475= NM_001351683.4:c.476-475G>C NM_001351683.4:c.476-475G>A
DZANK1 transcript variant 2 NM_001351684.2:c.476-475= NM_001351684.2:c.476-475G>C NM_001351684.2:c.476-475G>A
DZANK1 transcript variant 5 NM_001367611.1:c.475+517= NM_001367611.1:c.475+517G>C NM_001367611.1:c.475+517G>A
DZANK1 transcript variant 6 NM_001367612.1:c.475+517= NM_001367612.1:c.475+517G>C NM_001367612.1:c.475+517G>A
DZANK1 transcript variant 7 NM_001367613.1:c.475+517= NM_001367613.1:c.475+517G>C NM_001367613.1:c.475+517G>A
DZANK1 transcript variant 8 NM_001367614.1:c.476-475= NM_001367614.1:c.476-475G>C NM_001367614.1:c.476-475G>A
DZANK1 transcript variant 11 NM_001367617.1:c.476-475= NM_001367617.1:c.476-475G>C NM_001367617.1:c.476-475G>A
DZANK1 transcript variant 12 NM_001367618.1:c.476-475= NM_001367618.1:c.476-475G>C NM_001367618.1:c.476-475G>A
DZANK1 transcript variant 13 NM_001367619.1:c.24+517= NM_001367619.1:c.24+517G>C NM_001367619.1:c.24+517G>A
DZANK1 transcript variant 4 NM_018152.3:c.24+517= NM_018152.3:c.24+517G>C NM_018152.3:c.24+517G>A
DZANK1 transcript variant X1 XM_005260741.1:c.476-475= XM_005260741.1:c.476-475G>C XM_005260741.1:c.476-475G>A
DZANK1 transcript variant X2 XM_005260742.1:c.476-475= XM_005260742.1:c.476-475G>C XM_005260742.1:c.476-475G>A
DZANK1 transcript variant X3 XM_005260743.1:c.24+517= XM_005260743.1:c.24+517G>C XM_005260743.1:c.24+517G>A
DZANK1 transcript variant X13 XM_006723584.3:c.475+517= XM_006723584.3:c.475+517G>C XM_006723584.3:c.475+517G>A
DZANK1 transcript variant X1 XM_011529268.3:c.503-475= XM_011529268.3:c.503-475G>C XM_011529268.3:c.503-475G>A
DZANK1 transcript variant X4 XM_011529272.3:c.476-475= XM_011529272.3:c.476-475G>C XM_011529272.3:c.476-475G>A
DZANK1 transcript variant X3 XM_017027910.2:c.476-475= XM_017027910.2:c.476-475G>C XM_017027910.2:c.476-475G>A
DZANK1 transcript variant X2 XM_017027911.2:c.476-475= XM_017027911.2:c.476-475G>C XM_017027911.2:c.476-475G>A
DZANK1 transcript variant X5 XM_017027912.3:c.511+517= XM_017027912.3:c.511+517G>C XM_017027912.3:c.511+517G>A
DZANK1 transcript variant X7 XM_017027913.3:c.511+517= XM_017027913.3:c.511+517G>C XM_017027913.3:c.511+517G>A
DZANK1 transcript variant X10 XM_017027915.3:c.475+517= XM_017027915.3:c.475+517G>C XM_017027915.3:c.475+517G>A
DZANK1 transcript variant X12 XM_017027916.3:c.511+517= XM_017027916.3:c.511+517G>C XM_017027916.3:c.511+517G>A
DZANK1 transcript variant X14 XM_024451934.2:c.24+517= XM_024451934.2:c.24+517G>C XM_024451934.2:c.24+517G>A
DZANK1 transcript variant X6 XM_047440248.1:c.476-475= XM_047440248.1:c.476-475G>C XM_047440248.1:c.476-475G>A
DZANK1 transcript variant X8 XM_047440249.1:c.502+517= XM_047440249.1:c.502+517G>C XM_047440249.1:c.502+517G>A
DZANK1 transcript variant X9 XM_047440250.1:c.502+517= XM_047440250.1:c.502+517G>C XM_047440250.1:c.502+517G>A
DZANK1 transcript variant X11 XM_047440251.1:c.475+517= XM_047440251.1:c.475+517G>C XM_047440251.1:c.475+517G>A
DZANK1 transcript variant X15 XM_047440252.1:c.24+517= XM_047440252.1:c.24+517G>C XM_047440252.1:c.24+517G>A
DZANK1 transcript variant X19 XM_047440253.1:c.475+517= XM_047440253.1:c.475+517G>C XM_047440253.1:c.475+517G>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#.

81 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss8356015 Apr 21, 2003 (114)
2 ABI ss41391841 Mar 14, 2006 (126)
3 AFFY ss66461326 Dec 01, 2006 (127)
4 AFFY ss76260433 Dec 07, 2007 (129)
5 HGSV ss77471184 Dec 07, 2007 (129)
6 HGSV ss79844027 Dec 16, 2007 (130)
7 KRIBB_YJKIM ss82208849 Dec 15, 2007 (130)
8 HGSV ss85342592 Dec 16, 2007 (130)
9 BCMHGSC_JDW ss91658538 Mar 24, 2008 (129)
10 HUMANGENOME_JCVI ss96220649 Feb 06, 2009 (130)
11 1000GENOMES ss111823771 Jan 25, 2009 (130)
12 1000GENOMES ss113167588 Jan 25, 2009 (130)
13 ILLUMINA-UK ss117505073 Feb 14, 2009 (130)
14 ENSEMBL ss138219941 Dec 01, 2009 (131)
15 ENSEMBL ss139851795 Dec 01, 2009 (131)
16 GMI ss156239571 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss167934865 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss169260215 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss171972367 Jul 04, 2010 (132)
20 AFFY ss173013854 Jul 04, 2010 (132)
21 BUSHMAN ss203849907 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss208595160 Jul 04, 2010 (132)
23 1000GENOMES ss228290283 Jul 14, 2010 (132)
24 1000GENOMES ss237788983 Jul 15, 2010 (132)
25 1000GENOMES ss243969403 Jul 15, 2010 (132)
26 BL ss255523730 May 09, 2011 (134)
27 GMI ss283324200 May 04, 2012 (137)
28 GMI ss287433880 Apr 25, 2013 (138)
29 PJP ss292624913 May 09, 2011 (134)
30 TISHKOFF ss566174460 Apr 25, 2013 (138)
31 SSMP ss662049251 Apr 25, 2013 (138)
32 EVA-GONL ss994604009 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1082121885 Aug 21, 2014 (142)
34 1000GENOMES ss1364297608 Aug 21, 2014 (142)
35 DDI ss1429015916 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1579463969 Apr 01, 2015 (144)
37 EVA_UK10K_ALSPAC ss1638539990 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1681534023 Apr 01, 2015 (144)
39 EVA_DECODE ss1698661976 Apr 01, 2015 (144)
40 EVA_SVP ss1713685485 Apr 01, 2015 (144)
41 HAMMER_LAB ss1809449208 Sep 08, 2015 (146)
42 WEILL_CORNELL_DGM ss1938111748 Feb 12, 2016 (147)
43 GENOMED ss1969107276 Jul 19, 2016 (147)
44 JJLAB ss2029840007 Sep 14, 2016 (149)
45 USC_VALOUEV ss2158393171 Dec 20, 2016 (150)
46 HUMAN_LONGEVITY ss2241811217 Dec 20, 2016 (150)
47 SYSTEMSBIOZJU ss2629415847 Nov 08, 2017 (151)
48 GRF ss2704067857 Nov 08, 2017 (151)
49 GNOMAD ss2966082503 Nov 08, 2017 (151)
50 SWEGEN ss3017962773 Nov 08, 2017 (151)
51 BIOINF_KMB_FNS_UNIBA ss3028753727 Nov 08, 2017 (151)
52 CSHL ss3352449001 Nov 08, 2017 (151)
53 URBANLAB ss3650985104 Oct 12, 2018 (152)
54 EGCUT_WGS ss3684685099 Jul 13, 2019 (153)
55 EVA_DECODE ss3706676264 Jul 13, 2019 (153)
56 ACPOP ss3743302557 Jul 13, 2019 (153)
57 EVA ss3758497595 Jul 13, 2019 (153)
58 PACBIO ss3788615753 Jul 13, 2019 (153)
59 PACBIO ss3793513750 Jul 13, 2019 (153)
60 PACBIO ss3798400918 Jul 13, 2019 (153)
61 KHV_HUMAN_GENOMES ss3821667903 Jul 13, 2019 (153)
62 EVA ss3835620201 Apr 27, 2020 (154)
63 EVA ss3841436253 Apr 27, 2020 (154)
64 EVA ss3846944308 Apr 27, 2020 (154)
65 SGDP_PRJ ss3888855063 Apr 27, 2020 (154)
66 KRGDB ss3939055247 Apr 27, 2020 (154)
67 TOPMED ss5084298488 Apr 27, 2021 (155)
68 TOMMO_GENOMICS ss5229100278 Apr 27, 2021 (155)
69 1000G_HIGH_COVERAGE ss5308287432 Oct 16, 2022 (156)
70 EVA ss5436636005 Oct 16, 2022 (156)
71 HUGCELL_USP ss5500670862 Oct 16, 2022 (156)
72 EVA ss5512176072 Oct 16, 2022 (156)
73 1000G_HIGH_COVERAGE ss5614472895 Oct 16, 2022 (156)
74 SANFORD_IMAGENETICS ss5662981976 Oct 16, 2022 (156)
75 TOMMO_GENOMICS ss5788159857 Oct 16, 2022 (156)
76 YY_MCH ss5817868641 Oct 16, 2022 (156)
77 EVA ss5845527654 Oct 16, 2022 (156)
78 EVA ss5853095343 Oct 16, 2022 (156)
79 EVA ss5922910797 Oct 16, 2022 (156)
80 EVA ss5957892759 Oct 16, 2022 (156)
81 EVA ss5981079774 Oct 16, 2022 (156)
82 1000Genomes NC_000020.10 - 18433858 Oct 12, 2018 (152)
83 1000Genomes_30x NC_000020.11 - 18453214 Oct 16, 2022 (156)
84 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 18433858 Oct 12, 2018 (152)
85 Genetic variation in the Estonian population NC_000020.10 - 18433858 Oct 12, 2018 (152)
86 The Danish reference pan genome NC_000020.10 - 18433858 Apr 27, 2020 (154)
87 gnomAD - Genomes NC_000020.11 - 18453214 Apr 27, 2021 (155)
88 Genome of the Netherlands Release 5 NC_000020.10 - 18433858 Apr 27, 2020 (154)
89 HapMap NC_000020.11 - 18453214 Apr 27, 2020 (154)
90 KOREAN population from KRGDB NC_000020.10 - 18433858 Apr 27, 2020 (154)
91 Northern Sweden NC_000020.10 - 18433858 Jul 13, 2019 (153)
92 Qatari NC_000020.10 - 18433858 Apr 27, 2020 (154)
93 SGDP_PRJ NC_000020.10 - 18433858 Apr 27, 2020 (154)
94 Siberian NC_000020.10 - 18433858 Apr 27, 2020 (154)
95 8.3KJPN NC_000020.10 - 18433858 Apr 27, 2021 (155)
96 14KJPN NC_000020.11 - 18453214 Oct 16, 2022 (156)
97 TopMed NC_000020.11 - 18453214 Apr 27, 2021 (155)
98 UK 10K study - Twins NC_000020.10 - 18433858 Oct 12, 2018 (152)
99 A Vietnamese Genetic Variation Database NC_000020.10 - 18433858 Jul 13, 2019 (153)
100 ALFA NC_000020.11 - 18453214 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)
rs59086907 Feb 27, 2009 (130)
rs61280935 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
46232641, ss3939055247 NC_000020.10:18433857:C:G NC_000020.11:18453213:C:G (self)
ss77471184, ss79844027, ss85342592, ss91658538, ss111823771, ss113167588, ss117505073, ss167934865, ss169260215, ss171972367, ss203849907, ss208595160, ss255523730, ss283324200, ss287433880, ss292624913, ss1698661976, ss1713685485 NC_000020.9:18381857:C:T NC_000020.11:18453213:C:T (self)
77745379, 43044915, 30423347, 5628908, 19180963, 46232641, 16587422, 20153670, 40872043, 10909525, 87069585, 43044915, 9505055, ss228290283, ss237788983, ss243969403, ss566174460, ss662049251, ss994604009, ss1082121885, ss1364297608, ss1429015916, ss1579463969, ss1638539990, ss1681534023, ss1809449208, ss1938111748, ss1969107276, ss2029840007, ss2158393171, ss2629415847, ss2704067857, ss2966082503, ss3017962773, ss3352449001, ss3684685099, ss3743302557, ss3758497595, ss3788615753, ss3793513750, ss3798400918, ss3835620201, ss3841436253, ss3888855063, ss3939055247, ss5229100278, ss5436636005, ss5512176072, ss5662981976, ss5845527654, ss5957892759, ss5981079774 NC_000020.10:18433857:C:T NC_000020.11:18453213:C:T (self)
101998830, 548141250, 2089564, 121996961, 359407433, 5654922869, ss2241811217, ss3028753727, ss3650985104, ss3706676264, ss3821667903, ss3846944308, ss5084298488, ss5308287432, ss5500670862, ss5614472895, ss5788159857, ss5817868641, ss5853095343, ss5922910797 NC_000020.11:18453213:C:T NC_000020.11:18453213:C:T (self)
ss8356015, ss41391841, ss66461326, ss76260433, ss82208849, ss96220649, ss138219941, ss139851795, ss156239571, ss173013854 NT_011387.8:18373857:C:T NC_000020.11:18453213: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 rs6045411

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