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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.

rs263063

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:5022593 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.088266 (23363/264690, TOPMED)
T=0.090663 (21542/237606, ALFA)
T=0.079956 (11211/140214, GnomAD) (+ 20 more)
T=0.10033 (7895/78692, PAGE_STUDY)
T=0.18485 (5223/28256, 14KJPN)
T=0.18355 (3076/16758, 8.3KJPN)
T=0.1071 (686/6404, 1000G_30x)
T=0.1092 (547/5008, 1000G)
T=0.0603 (270/4480, Estonian)
T=0.0848 (327/3854, ALSPAC)
T=0.0852 (316/3708, TWINSUK)
T=0.2334 (684/2930, KOREAN)
T=0.1422 (296/2082, HGDP_Stanford)
T=0.1045 (197/1886, HapMap)
T=0.083 (83/998, GoNL)
T=0.213 (168/788, PRJEB37584)
T=0.042 (25/600, NorthernSweden)
T=0.111 (60/542, SGDP_PRJ)
T=0.083 (18/216, Qatari)
T=0.224 (48/214, Vietnamese)
T=0.05 (4/88, Ancient Sardinia)
T=0.06 (3/54, Siberian)
T=0.05 (2/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KDM4B : 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 242642 T=0.090516 C=0.909484
European Sub 211496 T=0.087817 C=0.912183
African Sub 8726 T=0.0384 C=0.9616
African Others Sub 320 T=0.022 C=0.978
African American Sub 8406 T=0.0390 C=0.9610
Asian Sub 772 T=0.233 C=0.767
East Asian Sub 626 T=0.232 C=0.768
Other Asian Sub 146 T=0.240 C=0.760
Latin American 1 Sub 844 T=0.077 C=0.923
Latin American 2 Sub 6910 T=0.1761 C=0.8239
South Asian Sub 5044 T=0.1310 C=0.8690
Other Sub 8850 T=0.1053 C=0.8947


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=0.088266 C=0.911734
Allele Frequency Aggregator Total Global 237606 T=0.090663 C=0.909337
Allele Frequency Aggregator European Sub 208402 T=0.087787 C=0.912213
Allele Frequency Aggregator Other Sub 8050 T=0.1043 C=0.8957
Allele Frequency Aggregator African Sub 7584 T=0.0374 C=0.9626
Allele Frequency Aggregator Latin American 2 Sub 6910 T=0.1761 C=0.8239
Allele Frequency Aggregator South Asian Sub 5044 T=0.1310 C=0.8690
Allele Frequency Aggregator Latin American 1 Sub 844 T=0.077 C=0.923
Allele Frequency Aggregator Asian Sub 772 T=0.233 C=0.767
gnomAD - Genomes Global Study-wide 140214 T=0.079956 C=0.920044
gnomAD - Genomes European Sub 75928 T=0.08384 C=0.91616
gnomAD - Genomes African Sub 42036 T=0.03947 C=0.96053
gnomAD - Genomes American Sub 13644 T=0.14937 C=0.85063
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.0857 C=0.9143
gnomAD - Genomes East Asian Sub 3128 T=0.2129 C=0.7871
gnomAD - Genomes Other Sub 2154 T=0.0915 C=0.9085
The PAGE Study Global Study-wide 78692 T=0.10033 C=0.89967
The PAGE Study AfricanAmerican Sub 32512 T=0.03879 C=0.96121
The PAGE Study Mexican Sub 10808 T=0.17024 C=0.82976
The PAGE Study Asian Sub 8318 T=0.1908 C=0.8092
The PAGE Study PuertoRican Sub 7916 T=0.0845 C=0.9155
The PAGE Study NativeHawaiian Sub 4534 T=0.1974 C=0.8026
The PAGE Study Cuban Sub 4230 T=0.0835 C=0.9165
The PAGE Study Dominican Sub 3826 T=0.0672 C=0.9328
The PAGE Study CentralAmerican Sub 2450 T=0.1755 C=0.8245
The PAGE Study SouthAmerican Sub 1982 T=0.1680 C=0.8320
The PAGE Study NativeAmerican Sub 1260 T=0.1341 C=0.8659
The PAGE Study SouthAsian Sub 856 T=0.118 C=0.882
14KJPN JAPANESE Study-wide 28256 T=0.18485 C=0.81515
8.3KJPN JAPANESE Study-wide 16758 T=0.18355 C=0.81645
1000Genomes_30x Global Study-wide 6404 T=0.1071 C=0.8929
1000Genomes_30x African Sub 1786 T=0.0190 C=0.9810
1000Genomes_30x Europe Sub 1266 T=0.0821 C=0.9179
1000Genomes_30x South Asian Sub 1202 T=0.1090 C=0.8910
1000Genomes_30x East Asian Sub 1170 T=0.2205 C=0.7795
1000Genomes_30x American Sub 980 T=0.162 C=0.838
1000Genomes Global Study-wide 5008 T=0.1092 C=0.8908
1000Genomes African Sub 1322 T=0.0197 C=0.9803
1000Genomes East Asian Sub 1008 T=0.2183 C=0.7817
1000Genomes Europe Sub 1006 T=0.0835 C=0.9165
1000Genomes South Asian Sub 978 T=0.108 C=0.892
1000Genomes American Sub 694 T=0.160 C=0.840
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.0603 C=0.9397
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.0848 C=0.9152
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.0852 C=0.9148
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.2334 A=0.0000, C=0.7666
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 T=0.1422 C=0.8578
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 T=0.218 C=0.782
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.169 C=0.831
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.109 C=0.891
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.081 C=0.919
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.021 C=0.979
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.250 C=0.750
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.01 C=0.99
HapMap Global Study-wide 1886 T=0.1045 C=0.8955
HapMap American Sub 768 T=0.130 C=0.870
HapMap African Sub 688 T=0.036 C=0.964
HapMap Asian Sub 254 T=0.217 C=0.783
HapMap Europe Sub 176 T=0.097 C=0.903
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.083 C=0.917
CNV burdens in cranial meningiomas Global Study-wide 788 T=0.213 C=0.787
CNV burdens in cranial meningiomas CRM Sub 788 T=0.213 C=0.787
Northern Sweden ACPOP Study-wide 600 T=0.042 C=0.958
SGDP_PRJ Global Study-wide 542 T=0.111 C=0.889
Qatari Global Study-wide 216 T=0.083 C=0.917
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.224 C=0.776
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 88 T=0.05 C=0.95
Siberian Global Study-wide 54 T=0.06 C=0.94
The Danish reference pan genome Danish Study-wide 40 T=0.05 C=0.95
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 19 NC_000019.10:g.5022593T>A
GRCh38.p14 chr 19 NC_000019.10:g.5022593T>C
GRCh37.p13 chr 19 NC_000019.9:g.5022604T>A
GRCh37.p13 chr 19 NC_000019.9:g.5022604T>C
Gene: KDM4B, lysine demethylase 4B (plus strand)
Molecule type Change Amino acid[Codon] SO Term
KDM4B transcript variant 2 NM_001370093.1:c.-26+6254…

NM_001370093.1:c.-26+6254T>A

N/A Intron Variant
KDM4B transcript variant 3 NM_001370094.1:c.-26+6254…

NM_001370094.1:c.-26+6254T>A

N/A Intron Variant
KDM4B transcript variant 1 NM_015015.3:c.-26+6254T>A N/A Intron Variant
KDM4B transcript variant X1 XM_005259521.5:c.-26+6254…

XM_005259521.5:c.-26+6254T>A

N/A Intron Variant
KDM4B transcript variant X5 XM_011527814.3:c.-136+625…

XM_011527814.3:c.-136+6254T>A

N/A Intron Variant
KDM4B transcript variant X9 XM_011527819.3:c.-26+6254…

XM_011527819.3:c.-26+6254T>A

N/A Intron Variant
KDM4B transcript variant X10 XM_011527820.3:c.-26+6254…

XM_011527820.3:c.-26+6254T>A

N/A Intron Variant
KDM4B transcript variant X11 XM_011527821.3:c.-26+6254…

XM_011527821.3:c.-26+6254T>A

N/A Intron Variant
KDM4B transcript variant X12 XM_011527822.3:c.-26+6254…

XM_011527822.3:c.-26+6254T>A

N/A Intron Variant
KDM4B transcript variant X3 XM_017026503.2:c.-26+6254…

XM_017026503.2:c.-26+6254T>A

N/A Intron Variant
KDM4B transcript variant X7 XM_017026504.3:c.-26+6254…

XM_017026504.3:c.-26+6254T>A

N/A Intron Variant
KDM4B transcript variant X8 XM_017026505.3:c.-26+6254…

XM_017026505.3:c.-26+6254T>A

N/A Intron Variant
KDM4B transcript variant X2 XM_047438470.1:c.-26+6254…

XM_047438470.1:c.-26+6254T>A

N/A Intron Variant
KDM4B transcript variant X3 XM_047438471.1:c.-26+6254…

XM_047438471.1:c.-26+6254T>A

N/A Intron Variant
KDM4B transcript variant X4 XM_047438472.1:c.-26+6254…

XM_047438472.1:c.-26+6254T>A

N/A Intron Variant
KDM4B transcript variant X6 XM_011527817.3:c. N/A Genic Upstream Transcript Variant
KDM4B transcript variant X13 XR_007066691.1: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 T= A C
GRCh38.p14 chr 19 NC_000019.10:g.5022593= NC_000019.10:g.5022593T>A NC_000019.10:g.5022593T>C
GRCh37.p13 chr 19 NC_000019.9:g.5022604= NC_000019.9:g.5022604T>A NC_000019.9:g.5022604T>C
KDM4B transcript variant 2 NM_001370093.1:c.-26+6254= NM_001370093.1:c.-26+6254T>A NM_001370093.1:c.-26+6254T>C
KDM4B transcript variant 3 NM_001370094.1:c.-26+6254= NM_001370094.1:c.-26+6254T>A NM_001370094.1:c.-26+6254T>C
KDM4B transcript NM_015015.2:c.-26+6254= NM_015015.2:c.-26+6254T>A NM_015015.2:c.-26+6254T>C
KDM4B transcript variant 1 NM_015015.3:c.-26+6254= NM_015015.3:c.-26+6254T>A NM_015015.3:c.-26+6254T>C
KDM4B transcript variant X1 XM_005259521.1:c.-26+6254= XM_005259521.1:c.-26+6254T>A XM_005259521.1:c.-26+6254T>C
KDM4B transcript variant X1 XM_005259521.5:c.-26+6254= XM_005259521.5:c.-26+6254T>A XM_005259521.5:c.-26+6254T>C
KDM4B transcript variant X5 XM_011527814.3:c.-136+6254= XM_011527814.3:c.-136+6254T>A XM_011527814.3:c.-136+6254T>C
KDM4B transcript variant X9 XM_011527819.3:c.-26+6254= XM_011527819.3:c.-26+6254T>A XM_011527819.3:c.-26+6254T>C
KDM4B transcript variant X10 XM_011527820.3:c.-26+6254= XM_011527820.3:c.-26+6254T>A XM_011527820.3:c.-26+6254T>C
KDM4B transcript variant X11 XM_011527821.3:c.-26+6254= XM_011527821.3:c.-26+6254T>A XM_011527821.3:c.-26+6254T>C
KDM4B transcript variant X12 XM_011527822.3:c.-26+6254= XM_011527822.3:c.-26+6254T>A XM_011527822.3:c.-26+6254T>C
KDM4B transcript variant X3 XM_017026503.2:c.-26+6254= XM_017026503.2:c.-26+6254T>A XM_017026503.2:c.-26+6254T>C
KDM4B transcript variant X7 XM_017026504.3:c.-26+6254= XM_017026504.3:c.-26+6254T>A XM_017026504.3:c.-26+6254T>C
KDM4B transcript variant X8 XM_017026505.3:c.-26+6254= XM_017026505.3:c.-26+6254T>A XM_017026505.3:c.-26+6254T>C
KDM4B transcript variant X2 XM_047438470.1:c.-26+6254= XM_047438470.1:c.-26+6254T>A XM_047438470.1:c.-26+6254T>C
KDM4B transcript variant X3 XM_047438471.1:c.-26+6254= XM_047438471.1:c.-26+6254T>A XM_047438471.1:c.-26+6254T>C
KDM4B transcript variant X4 XM_047438472.1:c.-26+6254= XM_047438472.1:c.-26+6254T>A XM_047438472.1:c.-26+6254T>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#.

143 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss343161 Jul 12, 2000 (79)
2 KWOK ss1255181 Oct 04, 2000 (86)
3 KWOK ss1631236 Oct 18, 2000 (87)
4 SC_JCM ss3661290 Sep 28, 2001 (100)
5 ABI ss44190311 Mar 13, 2006 (126)
6 ILLUMINA ss67264636 Nov 29, 2006 (127)
7 ILLUMINA ss67664329 Nov 29, 2006 (127)
8 ILLUMINA ss68208824 Dec 12, 2006 (127)
9 ILLUMINA ss70743030 May 25, 2008 (130)
10 ILLUMINA ss71314287 May 16, 2007 (127)
11 ILLUMINA ss75733190 Dec 06, 2007 (129)
12 HGSV ss79068040 Dec 06, 2007 (129)
13 KRIBB_YJKIM ss83406335 Dec 15, 2007 (130)
14 HGSV ss85583210 Dec 15, 2007 (130)
15 HGSV ss85740137 Dec 15, 2007 (130)
16 BCMHGSC_JDW ss90888883 Mar 24, 2008 (129)
17 HUMANGENOME_JCVI ss96287299 Feb 06, 2009 (130)
18 BGI ss106043287 Feb 06, 2009 (130)
19 1000GENOMES ss111016107 Jan 25, 2009 (130)
20 1000GENOMES ss114776294 Jan 25, 2009 (130)
21 ILLUMINA-UK ss117625397 Feb 14, 2009 (130)
22 ENSEMBL ss137527920 Dec 01, 2009 (131)
23 ILLUMINA ss154224820 Dec 01, 2009 (131)
24 GMI ss155558714 Dec 01, 2009 (131)
25 ILLUMINA ss159401324 Dec 01, 2009 (131)
26 ILLUMINA ss160565107 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss167718036 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss168944784 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss171426880 Jul 04, 2010 (132)
30 ILLUMINA ss173413128 Jul 04, 2010 (132)
31 BUSHMAN ss203621470 Jul 04, 2010 (132)
32 BCM-HGSC-SUB ss208490117 Jul 04, 2010 (132)
33 1000GENOMES ss228020520 Jul 14, 2010 (132)
34 1000GENOMES ss237586776 Jul 15, 2010 (132)
35 1000GENOMES ss243812185 Jul 15, 2010 (132)
36 BL ss255453050 May 09, 2011 (134)
37 GMI ss283107044 May 04, 2012 (137)
38 GMI ss287337197 Apr 25, 2013 (138)
39 PJP ss292177666 May 09, 2011 (134)
40 ILLUMINA ss480621739 May 04, 2012 (137)
41 ILLUMINA ss480636465 May 04, 2012 (137)
42 ILLUMINA ss481474637 Sep 08, 2015 (146)
43 ILLUMINA ss485105992 May 04, 2012 (137)
44 ILLUMINA ss537110790 Sep 08, 2015 (146)
45 TISHKOFF ss565826191 Apr 25, 2013 (138)
46 SSMP ss661679065 Apr 25, 2013 (138)
47 ILLUMINA ss778501772 Aug 21, 2014 (142)
48 ILLUMINA ss782999280 Aug 21, 2014 (142)
49 ILLUMINA ss783959822 Aug 21, 2014 (142)
50 ILLUMINA ss832256334 Apr 01, 2015 (144)
51 ILLUMINA ss832913038 Aug 21, 2014 (142)
52 ILLUMINA ss833503868 Aug 21, 2014 (142)
53 ILLUMINA ss833957899 Aug 21, 2014 (142)
54 EVA-GONL ss994041193 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1081728268 Aug 21, 2014 (142)
56 1000GENOMES ss1362179610 Aug 21, 2014 (142)
57 DDI ss1428321023 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1578537083 Apr 01, 2015 (144)
59 EVA_UK10K_ALSPAC ss1637481709 Apr 01, 2015 (144)
60 EVA_UK10K_TWINSUK ss1680475742 Apr 01, 2015 (144)
61 EVA_DECODE ss1698103102 Apr 01, 2015 (144)
62 EVA_SVP ss1713648166 Apr 01, 2015 (144)
63 ILLUMINA ss1752291292 Sep 08, 2015 (146)
64 HAMMER_LAB ss1809186226 Sep 08, 2015 (146)
65 WEILL_CORNELL_DGM ss1937520835 Feb 12, 2016 (147)
66 ILLUMINA ss1946523482 Feb 12, 2016 (147)
67 ILLUMINA ss1959832486 Feb 12, 2016 (147)
68 GENOMED ss1968596798 Jul 19, 2016 (147)
69 JJLAB ss2029535000 Sep 14, 2016 (149)
70 USC_VALOUEV ss2158051008 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2223940665 Dec 20, 2016 (150)
72 SYSTEMSBIOZJU ss2629266349 Nov 08, 2017 (151)
73 ILLUMINA ss2633512341 Nov 08, 2017 (151)
74 ILLUMINA ss2635081110 Nov 08, 2017 (151)
75 GRF ss2702654169 Nov 08, 2017 (151)
76 ILLUMINA ss2710875284 Nov 08, 2017 (151)
77 GNOMAD ss2959949537 Nov 08, 2017 (151)
78 SWEGEN ss3017015044 Nov 08, 2017 (151)
79 ILLUMINA ss3021873179 Nov 08, 2017 (151)
80 BIOINF_KMB_FNS_UNIBA ss3028599968 Nov 08, 2017 (151)
81 CSHL ss3352175081 Nov 08, 2017 (151)
82 ILLUMINA ss3625731061 Oct 12, 2018 (152)
83 ILLUMINA ss3627877805 Oct 12, 2018 (152)
84 ILLUMINA ss3631486142 Oct 12, 2018 (152)
85 ILLUMINA ss3633173087 Oct 12, 2018 (152)
86 ILLUMINA ss3633882683 Oct 12, 2018 (152)
87 ILLUMINA ss3634720352 Oct 12, 2018 (152)
88 ILLUMINA ss3635569722 Oct 12, 2018 (152)
89 ILLUMINA ss3636410579 Oct 12, 2018 (152)
90 ILLUMINA ss3637321398 Oct 12, 2018 (152)
91 ILLUMINA ss3638212914 Oct 12, 2018 (152)
92 ILLUMINA ss3639114844 Oct 12, 2018 (152)
93 ILLUMINA ss3639863569 Oct 12, 2018 (152)
94 ILLUMINA ss3640427660 Oct 12, 2018 (152)
95 ILLUMINA ss3641093595 Oct 12, 2018 (152)
96 ILLUMINA ss3641389218 Oct 12, 2018 (152)
97 ILLUMINA ss3643187375 Oct 12, 2018 (152)
98 ILLUMINA ss3643912560 Oct 12, 2018 (152)
99 ILLUMINA ss3644713345 Oct 12, 2018 (152)
100 URBANLAB ss3650858058 Oct 12, 2018 (152)
101 ILLUMINA ss3652297238 Oct 12, 2018 (152)
102 EGCUT_WGS ss3683858783 Jul 13, 2019 (153)
103 EVA_DECODE ss3702248831 Jul 13, 2019 (153)
104 ILLUMINA ss3725702056 Jul 13, 2019 (153)
105 ACPOP ss3742813125 Jul 13, 2019 (153)
106 ILLUMINA ss3744163086 Jul 13, 2019 (153)
107 ILLUMINA ss3745020416 Jul 13, 2019 (153)
108 EVA ss3755757101 Jul 13, 2019 (153)
109 PAGE_CC ss3771992296 Jul 13, 2019 (153)
110 ILLUMINA ss3772517809 Jul 13, 2019 (153)
111 PACBIO ss3788454282 Jul 13, 2019 (153)
112 PACBIO ss3793376408 Jul 13, 2019 (153)
113 PACBIO ss3798262995 Jul 13, 2019 (153)
114 KHV_HUMAN_GENOMES ss3821011481 Jul 13, 2019 (153)
115 EVA ss3835326429 Apr 27, 2020 (154)
116 EVA ss3841285306 Apr 27, 2020 (154)
117 EVA ss3846789356 Apr 27, 2020 (154)
118 HGDP ss3847593805 Apr 27, 2020 (154)
119 SGDP_PRJ ss3887662141 Apr 27, 2020 (154)
120 KRGDB ss3937607958 Apr 27, 2020 (154)
121 EVA ss3984737757 Apr 26, 2021 (155)
122 EVA ss3985844022 Apr 26, 2021 (155)
123 EVA ss4017813249 Apr 26, 2021 (155)
124 TOPMED ss5066555439 Apr 26, 2021 (155)
125 TOMMO_GENOMICS ss5226512944 Apr 26, 2021 (155)
126 1000G_HIGH_COVERAGE ss5306326914 Oct 16, 2022 (156)
127 EVA ss5315958143 Oct 16, 2022 (156)
128 EVA ss5433292250 Oct 16, 2022 (156)
129 HUGCELL_USP ss5498978422 Oct 16, 2022 (156)
130 EVA ss5512031369 Oct 16, 2022 (156)
131 1000G_HIGH_COVERAGE ss5611663402 Oct 16, 2022 (156)
132 SANFORD_IMAGENETICS ss5624422764 Oct 16, 2022 (156)
133 SANFORD_IMAGENETICS ss5661885527 Oct 16, 2022 (156)
134 TOMMO_GENOMICS ss5784714774 Oct 16, 2022 (156)
135 EVA ss5800002695 Oct 16, 2022 (156)
136 YY_MCH ss5817364696 Oct 16, 2022 (156)
137 EVA ss5840190751 Oct 16, 2022 (156)
138 EVA ss5847492666 Oct 16, 2022 (156)
139 EVA ss5847832323 Oct 16, 2022 (156)
140 EVA ss5852185671 Oct 16, 2022 (156)
141 EVA ss5927124849 Oct 16, 2022 (156)
142 EVA ss5953311914 Oct 16, 2022 (156)
143 EVA ss5979537904 Oct 16, 2022 (156)
144 1000Genomes NC_000019.9 - 5022604 Oct 12, 2018 (152)
145 1000Genomes_30x NC_000019.10 - 5022593 Oct 16, 2022 (156)
146 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 5022604 Oct 12, 2018 (152)
147 Genetic variation in the Estonian population NC_000019.9 - 5022604 Oct 12, 2018 (152)
148 The Danish reference pan genome NC_000019.9 - 5022604 Apr 27, 2020 (154)
149 gnomAD - Genomes NC_000019.10 - 5022593 Apr 26, 2021 (155)
150 Genome of the Netherlands Release 5 NC_000019.9 - 5022604 Apr 27, 2020 (154)
151 HGDP-CEPH-db Supplement 1 NC_000019.8 - 4973604 Apr 27, 2020 (154)
152 HapMap NC_000019.10 - 5022593 Apr 27, 2020 (154)
153 KOREAN population from KRGDB NC_000019.9 - 5022604 Apr 27, 2020 (154)
154 Northern Sweden NC_000019.9 - 5022604 Jul 13, 2019 (153)
155 The PAGE Study NC_000019.10 - 5022593 Jul 13, 2019 (153)
156 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000019.9 - 5022604 Apr 26, 2021 (155)
157 CNV burdens in cranial meningiomas NC_000019.9 - 5022604 Apr 26, 2021 (155)
158 Qatari NC_000019.9 - 5022604 Apr 27, 2020 (154)
159 SGDP_PRJ NC_000019.9 - 5022604 Apr 27, 2020 (154)
160 Siberian NC_000019.9 - 5022604 Apr 27, 2020 (154)
161 8.3KJPN NC_000019.9 - 5022604 Apr 26, 2021 (155)
162 14KJPN NC_000019.10 - 5022593 Oct 16, 2022 (156)
163 TopMed NC_000019.10 - 5022593 Apr 26, 2021 (155)
164 UK 10K study - Twins NC_000019.9 - 5022604 Oct 12, 2018 (152)
165 A Vietnamese Genetic Variation Database NC_000019.9 - 5022604 Jul 13, 2019 (153)
166 ALFA NC_000019.10 - 5022593 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)
rs60149489 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
44785352, ss3937607958 NC_000019.9:5022603:T:A NC_000019.10:5022592:T:A (self)
271697, ss79068040, ss85583210, ss85740137, ss90888883, ss111016107, ss114776294, ss117625397, ss160565107, ss167718036, ss168944784, ss171426880, ss203621470, ss208490117, ss255453050, ss283107044, ss287337197, ss292177666, ss480621739, ss1698103102, ss1713648166, ss2635081110, ss3639114844, ss3639863569, ss3643187375, ss3643912560, ss3847593805 NC_000019.8:4973603:T:C NC_000019.10:5022592:T:C (self)
75550012, 41866782, 29597031, 4723737, 18651993, 44785352, 16097990, 1069949, 287309, 19562757, 39679121, 10567362, 84482251, 41866782, 9257034, ss228020520, ss237586776, ss243812185, ss480636465, ss481474637, ss485105992, ss537110790, ss565826191, ss661679065, ss778501772, ss782999280, ss783959822, ss832256334, ss832913038, ss833503868, ss833957899, ss994041193, ss1081728268, ss1362179610, ss1428321023, ss1578537083, ss1637481709, ss1680475742, ss1752291292, ss1809186226, ss1937520835, ss1946523482, ss1959832486, ss1968596798, ss2029535000, ss2158051008, ss2629266349, ss2633512341, ss2702654169, ss2710875284, ss2959949537, ss3017015044, ss3021873179, ss3352175081, ss3625731061, ss3627877805, ss3631486142, ss3633173087, ss3633882683, ss3634720352, ss3635569722, ss3636410579, ss3637321398, ss3638212914, ss3640427660, ss3641093595, ss3641389218, ss3644713345, ss3652297238, ss3683858783, ss3742813125, ss3744163086, ss3745020416, ss3755757101, ss3772517809, ss3788454282, ss3793376408, ss3798262995, ss3835326429, ss3841285306, ss3887662141, ss3937607958, ss3984737757, ss3985844022, ss4017813249, ss5226512944, ss5315958143, ss5433292250, ss5512031369, ss5624422764, ss5661885527, ss5800002695, ss5840190751, ss5847492666, ss5847832323, ss5953311914, ss5979537904 NC_000019.9:5022603:T:C NC_000019.10:5022592:T:C (self)
99189337, 532796883, 1661565, 1213765, 118551878, 282101103, 9452989556, ss2223940665, ss3028599968, ss3650858058, ss3702248831, ss3725702056, ss3771992296, ss3821011481, ss3846789356, ss5066555439, ss5306326914, ss5498978422, ss5611663402, ss5784714774, ss5817364696, ss5852185671, ss5927124849 NC_000019.10:5022592:T:C NC_000019.10:5022592:T:C (self)
ss343161, ss1255181, ss1631236, ss3661290, ss44190311, ss67264636, ss67664329, ss68208824, ss70743030, ss71314287, ss75733190, ss83406335, ss96287299, ss106043287, ss137527920, ss154224820, ss155558714, ss159401324, ss173413128 NT_011255.14:4962603:T:C NC_000019.10:5022592:T:C (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 rs263063

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