Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs11218067

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:120944858 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.168874 (51716/306240, ALFA)
A=0.134580 (35622/264690, TOPMED)
A=0.13769 (10836/78700, PAGE_STUDY) (+ 22 more)
A=0.38881 (10987/28258, 14KJPN)
A=0.39116 (6555/16758, 8.3KJPN)
A=0.1654 (1059/6404, 1000G_30x)
A=0.1719 (861/5008, 1000G)
A=0.2051 (919/4480, Estonian)
A=0.1783 (687/3854, ALSPAC)
A=0.1739 (645/3708, TWINSUK)
A=0.1884 (615/3264, PRJNA289433)
A=0.3502 (1026/2930, KOREAN)
A=0.1886 (393/2084, HGDP_Stanford)
A=0.1459 (276/1892, HapMap)
A=0.3526 (646/1832, Korea1K)
A=0.194 (194/998, GoNL)
A=0.325 (257/790, PRJEB37584)
A=0.190 (119/626, Chileans)
A=0.183 (110/600, NorthernSweden)
A=0.116 (25/216, Qatari)
A=0.216 (45/208, Vietnamese)
G=0.437 (76/174, SGDP_PRJ)
A=0.25 (10/40, GENOME_DK)
A=0.00 (0/38, Ancient Sardinia)
G=0.44 (7/16, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GRIK4 : Intron Variant
LOC101929208 : 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 311276 G=0.831632 A=0.168368
European Sub 275040 G=0.831635 A=0.168365
African Sub 9100 G=0.9673 A=0.0327
African Others Sub 372 G=0.992 A=0.008
African American Sub 8728 G=0.9662 A=0.0338
Asian Sub 3926 G=0.6808 A=0.3192
East Asian Sub 3182 G=0.6675 A=0.3325
Other Asian Sub 744 G=0.738 A=0.262
Latin American 1 Sub 1132 G=0.8896 A=0.1104
Latin American 2 Sub 7150 G=0.8053 A=0.1947
South Asian Sub 5222 G=0.7375 A=0.2625
Other Sub 9706 G=0.8287 A=0.1713


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 306240 G=0.831126 A=0.168874
Allele Frequency Aggregator European Sub 271946 G=0.831603 A=0.168397
Allele Frequency Aggregator Other Sub 8906 G=0.8291 A=0.1709
Allele Frequency Aggregator African Sub 7958 G=0.9676 A=0.0324
Allele Frequency Aggregator Latin American 2 Sub 7150 G=0.8053 A=0.1947
Allele Frequency Aggregator South Asian Sub 5222 G=0.7375 A=0.2625
Allele Frequency Aggregator Asian Sub 3926 G=0.6808 A=0.3192
Allele Frequency Aggregator Latin American 1 Sub 1132 G=0.8896 A=0.1104
TopMed Global Study-wide 264690 G=0.865420 A=0.134580
The PAGE Study Global Study-wide 78700 G=0.86231 A=0.13769
The PAGE Study AfricanAmerican Sub 32516 G=0.96263 A=0.03737
The PAGE Study Mexican Sub 10808 G=0.82615 A=0.17385
The PAGE Study Asian Sub 8318 G=0.6187 A=0.3813
The PAGE Study PuertoRican Sub 7918 G=0.8872 A=0.1128
The PAGE Study NativeHawaiian Sub 4534 G=0.6579 A=0.3421
The PAGE Study Cuban Sub 4230 G=0.8747 A=0.1253
The PAGE Study Dominican Sub 3828 G=0.9107 A=0.0893
The PAGE Study CentralAmerican Sub 2450 G=0.8167 A=0.1833
The PAGE Study SouthAmerican Sub 1982 G=0.8143 A=0.1857
The PAGE Study NativeAmerican Sub 1260 G=0.8325 A=0.1675
The PAGE Study SouthAsian Sub 856 G=0.736 A=0.264
14KJPN JAPANESE Study-wide 28258 G=0.61119 A=0.38881
8.3KJPN JAPANESE Study-wide 16758 G=0.60884 A=0.39116
1000Genomes_30x Global Study-wide 6404 G=0.8346 A=0.1654
1000Genomes_30x African Sub 1786 G=0.9882 A=0.0118
1000Genomes_30x Europe Sub 1266 G=0.8286 A=0.1714
1000Genomes_30x South Asian Sub 1202 G=0.7612 A=0.2388
1000Genomes_30x East Asian Sub 1170 G=0.7000 A=0.3000
1000Genomes_30x American Sub 980 G=0.813 A=0.187
1000Genomes Global Study-wide 5008 G=0.8281 A=0.1719
1000Genomes African Sub 1322 G=0.9864 A=0.0136
1000Genomes East Asian Sub 1008 G=0.6984 A=0.3016
1000Genomes Europe Sub 1006 G=0.8330 A=0.1670
1000Genomes South Asian Sub 978 G=0.760 A=0.240
1000Genomes American Sub 694 G=0.804 A=0.196
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7949 A=0.2051
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8217 A=0.1783
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8261 A=0.1739
MxGDAR/Encodat-PGx Global Study-wide 3264 G=0.8116 A=0.1884
MxGDAR/Encodat-PGx MxGDAR Sub 3264 G=0.8116 A=0.1884
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6498 A=0.3502, C=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.8114 A=0.1886
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.662 A=0.338
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.780 A=0.220
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.877 A=0.123
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.872 A=0.128
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.988 A=0.012
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.819 A=0.181
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.76 A=0.24
HapMap Global Study-wide 1892 G=0.8541 A=0.1459
HapMap American Sub 770 G=0.796 A=0.204
HapMap African Sub 692 G=0.986 A=0.014
HapMap Asian Sub 254 G=0.646 A=0.354
HapMap Europe Sub 176 G=0.892 A=0.108
Korean Genome Project KOREAN Study-wide 1832 G=0.6474 A=0.3526
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.806 A=0.194
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.675 A=0.325
CNV burdens in cranial meningiomas CRM Sub 790 G=0.675 A=0.325
Chileans Chilean Study-wide 626 G=0.810 A=0.190
Northern Sweden ACPOP Study-wide 600 G=0.817 A=0.183
Qatari Global Study-wide 216 G=0.884 A=0.116
A Vietnamese Genetic Variation Database Global Study-wide 208 G=0.784 A=0.216
SGDP_PRJ Global Study-wide 174 G=0.437 A=0.563
The Danish reference pan genome Danish Study-wide 40 G=0.75 A=0.25
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 38 G=1.00 A=0.00
Siberian Global Study-wide 16 G=0.44 A=0.56
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 11 NC_000011.10:g.120944858G>A
GRCh38.p14 chr 11 NC_000011.10:g.120944858G>C
GRCh38.p14 chr 11 NC_000011.10:g.120944858G>T
GRCh37.p13 chr 11 NC_000011.9:g.120815567G>A
GRCh37.p13 chr 11 NC_000011.9:g.120815567G>C
GRCh37.p13 chr 11 NC_000011.9:g.120815567G>T
GRIK4 RefSeqGene (LRG_1012) NG_042194.1:g.438113G>A
GRIK4 RefSeqGene (LRG_1012) NG_042194.1:g.438113G>C
GRIK4 RefSeqGene (LRG_1012) NG_042194.1:g.438113G>T
Gene: GRIK4, glutamate ionotropic receptor kainate type subunit 4 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GRIK4 transcript variant 1 NM_001282470.3:c.1590+439…

NM_001282470.3:c.1590+4398G>A

N/A Intron Variant
GRIK4 transcript variant 3 NM_001282473.3:c.1590+439…

NM_001282473.3:c.1590+4398G>A

N/A Intron Variant
GRIK4 transcript variant 2 NM_014619.5:c.1590+4398G>A N/A Intron Variant
GRIK4 transcript variant X1 XM_011542784.3:c.1428+439…

XM_011542784.3:c.1428+4398G>A

N/A Intron Variant
GRIK4 transcript variant X5 XM_011542786.3:c.864+4398…

XM_011542786.3:c.864+4398G>A

N/A Intron Variant
GRIK4 transcript variant X6 XM_011542787.3:c.828+4398…

XM_011542787.3:c.828+4398G>A

N/A Intron Variant
GRIK4 transcript variant X2 XM_017017621.3:c.1590+439…

XM_017017621.3:c.1590+4398G>A

N/A Intron Variant
GRIK4 transcript variant X3 XM_017017622.3:c.1386+439…

XM_017017622.3:c.1386+4398G>A

N/A Intron Variant
GRIK4 transcript variant X4 XM_047426840.1:c.981+4398…

XM_047426840.1:c.981+4398G>A

N/A Intron Variant
Gene: LOC101929208, uncharacterized LOC101929208 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC101929208 transcript NR_133004.1: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 G= A C T
GRCh38.p14 chr 11 NC_000011.10:g.120944858= NC_000011.10:g.120944858G>A NC_000011.10:g.120944858G>C NC_000011.10:g.120944858G>T
GRCh37.p13 chr 11 NC_000011.9:g.120815567= NC_000011.9:g.120815567G>A NC_000011.9:g.120815567G>C NC_000011.9:g.120815567G>T
GRIK4 RefSeqGene (LRG_1012) NG_042194.1:g.438113= NG_042194.1:g.438113G>A NG_042194.1:g.438113G>C NG_042194.1:g.438113G>T
GRIK4 transcript variant 1 NM_001282470.3:c.1590+4398= NM_001282470.3:c.1590+4398G>A NM_001282470.3:c.1590+4398G>C NM_001282470.3:c.1590+4398G>T
GRIK4 transcript variant 3 NM_001282473.3:c.1590+4398= NM_001282473.3:c.1590+4398G>A NM_001282473.3:c.1590+4398G>C NM_001282473.3:c.1590+4398G>T
GRIK4 transcript NM_014619.2:c.1590+4398= NM_014619.2:c.1590+4398G>A NM_014619.2:c.1590+4398G>C NM_014619.2:c.1590+4398G>T
GRIK4 transcript variant 2 NM_014619.5:c.1590+4398= NM_014619.5:c.1590+4398G>A NM_014619.5:c.1590+4398G>C NM_014619.5:c.1590+4398G>T
GRIK4 transcript variant X1 XM_005271519.1:c.1590+4398= XM_005271519.1:c.1590+4398G>A XM_005271519.1:c.1590+4398G>C XM_005271519.1:c.1590+4398G>T
GRIK4 transcript variant X2 XM_005271520.1:c.1590+4398= XM_005271520.1:c.1590+4398G>A XM_005271520.1:c.1590+4398G>C XM_005271520.1:c.1590+4398G>T
GRIK4 transcript variant X1 XM_011542784.3:c.1428+4398= XM_011542784.3:c.1428+4398G>A XM_011542784.3:c.1428+4398G>C XM_011542784.3:c.1428+4398G>T
GRIK4 transcript variant X5 XM_011542786.3:c.864+4398= XM_011542786.3:c.864+4398G>A XM_011542786.3:c.864+4398G>C XM_011542786.3:c.864+4398G>T
GRIK4 transcript variant X6 XM_011542787.3:c.828+4398= XM_011542787.3:c.828+4398G>A XM_011542787.3:c.828+4398G>C XM_011542787.3:c.828+4398G>T
GRIK4 transcript variant X2 XM_017017621.3:c.1590+4398= XM_017017621.3:c.1590+4398G>A XM_017017621.3:c.1590+4398G>C XM_017017621.3:c.1590+4398G>T
GRIK4 transcript variant X3 XM_017017622.3:c.1386+4398= XM_017017622.3:c.1386+4398G>A XM_017017622.3:c.1386+4398G>C XM_017017622.3:c.1386+4398G>T
GRIK4 transcript variant X4 XM_047426840.1:c.981+4398= XM_047426840.1:c.981+4398G>A XM_047426840.1:c.981+4398G>C XM_047426840.1:c.981+4398G>T
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

120 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss16289304 Feb 27, 2004 (120)
2 SC_SNP ss18478287 Feb 27, 2004 (120)
3 ILLUMINA ss66927394 Dec 01, 2006 (127)
4 ILLUMINA ss67081318 Dec 01, 2006 (127)
5 ILLUMINA ss68104173 Dec 12, 2006 (127)
6 ILLUMINA ss70525327 May 25, 2008 (130)
7 ILLUMINA ss71055146 May 17, 2007 (127)
8 ILLUMINA ss74958366 Dec 06, 2007 (129)
9 HGSV ss82934733 Dec 15, 2007 (130)
10 KRIBB_YJKIM ss85089689 Dec 15, 2007 (130)
11 BGI ss103007059 Dec 01, 2009 (131)
12 1000GENOMES ss111179919 Jan 25, 2009 (130)
13 ENSEMBL ss143837954 Dec 01, 2009 (131)
14 ILLUMINA ss152967668 Dec 01, 2009 (131)
15 ILLUMINA ss159171262 Dec 01, 2009 (131)
16 ILLUMINA ss159971279 Dec 01, 2009 (131)
17 ILLUMINA ss171179131 Jul 04, 2010 (132)
18 1000GENOMES ss235745997 Jul 15, 2010 (132)
19 1000GENOMES ss242339916 Jul 15, 2010 (132)
20 GMI ss281197514 May 04, 2012 (137)
21 ILLUMINA ss479501322 May 04, 2012 (137)
22 ILLUMINA ss479505214 May 04, 2012 (137)
23 ILLUMINA ss479950857 Sep 08, 2015 (146)
24 ILLUMINA ss484549946 May 04, 2012 (137)
25 ILLUMINA ss536688015 Sep 08, 2015 (146)
26 TISHKOFF ss562869003 Apr 25, 2013 (138)
27 SSMP ss658393839 Apr 25, 2013 (138)
28 ILLUMINA ss778381156 Sep 08, 2015 (146)
29 ILLUMINA ss782721638 Sep 08, 2015 (146)
30 ILLUMINA ss783689184 Sep 08, 2015 (146)
31 ILLUMINA ss831973220 Sep 08, 2015 (146)
32 ILLUMINA ss832683801 Jul 13, 2019 (153)
33 ILLUMINA ss833836135 Sep 08, 2015 (146)
34 EVA-GONL ss989034324 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1078099294 Aug 21, 2014 (142)
36 1000GENOMES ss1343243496 Aug 21, 2014 (142)
37 EVA_GENOME_DK ss1575993559 Apr 01, 2015 (144)
38 EVA_DECODE ss1598702291 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1627613354 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1670607387 Apr 01, 2015 (144)
41 EVA_SVP ss1713290610 Apr 01, 2015 (144)
42 ILLUMINA ss1751999139 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1932397285 Feb 12, 2016 (147)
44 ILLUMINA ss1946325098 Feb 12, 2016 (147)
45 ILLUMINA ss1959393385 Feb 12, 2016 (147)
46 GENOMED ss1967475946 Jul 19, 2016 (147)
47 JJLAB ss2026943047 Sep 14, 2016 (149)
48 ILLUMINA ss2094792160 Dec 20, 2016 (150)
49 ILLUMINA ss2095027987 Dec 20, 2016 (150)
50 USC_VALOUEV ss2155258590 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2186281700 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2627947251 Nov 08, 2017 (151)
53 ILLUMINA ss2632897027 Nov 08, 2017 (151)
54 ILLUMINA ss2635031243 Nov 08, 2017 (151)
55 GRF ss2699570729 Nov 08, 2017 (151)
56 ILLUMINA ss2710747816 Nov 08, 2017 (151)
57 GNOMAD ss2905235321 Nov 08, 2017 (151)
58 SWEGEN ss3008891932 Nov 08, 2017 (151)
59 ILLUMINA ss3021384315 Nov 08, 2017 (151)
60 BIOINF_KMB_FNS_UNIBA ss3027272869 Nov 08, 2017 (151)
61 CSHL ss3349827535 Nov 08, 2017 (151)
62 ILLUMINA ss3625610985 Oct 12, 2018 (152)
63 ILLUMINA ss3626767050 Oct 12, 2018 (152)
64 ILLUMINA ss3630910310 Oct 12, 2018 (152)
65 ILLUMINA ss3633002236 Oct 12, 2018 (152)
66 ILLUMINA ss3633702336 Oct 12, 2018 (152)
67 ILLUMINA ss3634479573 Oct 12, 2018 (152)
68 ILLUMINA ss3635393555 Oct 12, 2018 (152)
69 ILLUMINA ss3636163594 Oct 12, 2018 (152)
70 ILLUMINA ss3637144473 Oct 12, 2018 (152)
71 ILLUMINA ss3637934880 Oct 12, 2018 (152)
72 ILLUMINA ss3638981023 Oct 12, 2018 (152)
73 ILLUMINA ss3639801504 Oct 12, 2018 (152)
74 ILLUMINA ss3640186909 Oct 12, 2018 (152)
75 ILLUMINA ss3641021710 Oct 12, 2018 (152)
76 ILLUMINA ss3641316264 Oct 12, 2018 (152)
77 ILLUMINA ss3642930953 Oct 12, 2018 (152)
78 ILLUMINA ss3643853374 Oct 12, 2018 (152)
79 ILLUMINA ss3644577983 Oct 12, 2018 (152)
80 URBANLAB ss3649720107 Oct 12, 2018 (152)
81 ILLUMINA ss3651753540 Oct 12, 2018 (152)
82 EGCUT_WGS ss3676220805 Jul 13, 2019 (153)
83 EVA_DECODE ss3692735476 Jul 13, 2019 (153)
84 ILLUMINA ss3725283787 Jul 13, 2019 (153)
85 ACPOP ss3738599829 Jul 13, 2019 (153)
86 ILLUMINA ss3744091826 Jul 13, 2019 (153)
87 ILLUMINA ss3744780331 Jul 13, 2019 (153)
88 EVA ss3749899574 Jul 13, 2019 (153)
89 PAGE_CC ss3771658629 Jul 13, 2019 (153)
90 ILLUMINA ss3772280049 Jul 13, 2019 (153)
91 PACBIO ss3787086285 Jul 13, 2019 (153)
92 PACBIO ss3792207566 Jul 13, 2019 (153)
93 PACBIO ss3797090102 Jul 13, 2019 (153)
94 KHV_HUMAN_GENOMES ss3815225775 Jul 13, 2019 (153)
95 EVA ss3832873429 Apr 26, 2020 (154)
96 EVA ss3839999798 Apr 26, 2020 (154)
97 EVA ss3845481861 Apr 26, 2020 (154)
98 HGDP ss3847433895 Apr 26, 2020 (154)
99 SGDP_PRJ ss3877280412 Apr 26, 2020 (154)
100 KRGDB ss3925751776 Apr 26, 2020 (154)
101 KOGIC ss3970895010 Apr 26, 2020 (154)
102 EVA ss3984449464 Apr 26, 2021 (155)
103 EVA ss3984658639 Apr 26, 2021 (155)
104 EVA ss3985561895 Apr 26, 2021 (155)
105 EVA ss4017563072 Apr 26, 2021 (155)
106 TOPMED ss4902363567 Apr 26, 2021 (155)
107 TOMMO_GENOMICS ss5204202207 Apr 26, 2021 (155)
108 1000G_HIGH_COVERAGE ss5289141604 Oct 16, 2022 (156)
109 EVA ss5315582661 Oct 16, 2022 (156)
110 HUGCELL_USP ss5484107025 Oct 16, 2022 (156)
111 EVA ss5510543904 Oct 16, 2022 (156)
112 1000G_HIGH_COVERAGE ss5585746376 Oct 16, 2022 (156)
113 SANFORD_IMAGENETICS ss5652208412 Oct 16, 2022 (156)
114 TOMMO_GENOMICS ss5752743231 Oct 16, 2022 (156)
115 EVA ss5799856772 Oct 16, 2022 (156)
116 YY_MCH ss5812837047 Oct 16, 2022 (156)
117 EVA ss5837325193 Oct 16, 2022 (156)
118 EVA ss5850180346 Oct 16, 2022 (156)
119 EVA ss5921939623 Oct 16, 2022 (156)
120 EVA ss5943545378 Oct 16, 2022 (156)
121 1000Genomes NC_000011.9 - 120815567 Oct 12, 2018 (152)
122 1000Genomes_30x NC_000011.10 - 120944858 Oct 16, 2022 (156)
123 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 120815567 Oct 12, 2018 (152)
124 Chileans NC_000011.9 - 120815567 Apr 26, 2020 (154)
125 Genetic variation in the Estonian population NC_000011.9 - 120815567 Oct 12, 2018 (152)
126 The Danish reference pan genome NC_000011.9 - 120815567 Apr 26, 2020 (154)
127 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 393950000 (NC_000011.10:120944857:G:A 18808/140026)
Row 393950001 (NC_000011.10:120944857:G:T 1/140038)

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

Submission ignored due to conflicting rows:
Row 393950000 (NC_000011.10:120944857:G:A 18808/140026)
Row 393950001 (NC_000011.10:120944857:G:T 1/140038)

- Apr 26, 2021 (155)
129 Genome of the Netherlands Release 5 NC_000011.9 - 120815567 Apr 26, 2020 (154)
130 HGDP-CEPH-db Supplement 1 NC_000011.8 - 120320777 Apr 26, 2020 (154)
131 HapMap NC_000011.10 - 120944858 Apr 26, 2020 (154)
132 KOREAN population from KRGDB NC_000011.9 - 120815567 Apr 26, 2020 (154)
133 Korean Genome Project NC_000011.10 - 120944858 Apr 26, 2020 (154)
134 Northern Sweden NC_000011.9 - 120815567 Jul 13, 2019 (153)
135 The PAGE Study NC_000011.10 - 120944858 Jul 13, 2019 (153)
136 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000011.9 - 120815567 Apr 26, 2021 (155)
137 CNV burdens in cranial meningiomas NC_000011.9 - 120815567 Apr 26, 2021 (155)
138 MxGDAR/Encodat-PGx NC_000011.9 - 120815567 Apr 26, 2021 (155)
139 Qatari NC_000011.9 - 120815567 Apr 26, 2020 (154)
140 SGDP_PRJ NC_000011.9 - 120815567 Apr 26, 2020 (154)
141 Siberian NC_000011.9 - 120815567 Apr 26, 2020 (154)
142 8.3KJPN NC_000011.9 - 120815567 Apr 26, 2021 (155)
143 14KJPN NC_000011.10 - 120944858 Oct 16, 2022 (156)
144 TopMed NC_000011.10 - 120944858 Apr 26, 2021 (155)
145 UK 10K study - Twins NC_000011.9 - 120815567 Oct 12, 2018 (152)
146 A Vietnamese Genetic Variation Database NC_000011.9 - 120815567 Jul 13, 2019 (153)
147 ALFA NC_000011.10 - 120944858 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)
rs59009718 May 25, 2008 (130)
rs111188532 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
111787, ss82934733, ss111179919, ss281197514, ss479501322, ss1598702291, ss1713290610, ss2635031243, ss3638981023, ss3639801504, ss3642930953, ss3643853374, ss3847433895 NC_000011.8:120320776:G:A NC_000011.10:120944857:G:A (self)
55835474, 30997332, 87173, 21959053, 2763259, 13829349, 32929170, 11884694, 787822, 208125, 2465, 14439215, 29297392, 7774944, 62171514, 30997332, 6878045, ss235745997, ss242339916, ss479505214, ss479950857, ss484549946, ss536688015, ss562869003, ss658393839, ss778381156, ss782721638, ss783689184, ss831973220, ss832683801, ss833836135, ss989034324, ss1078099294, ss1343243496, ss1575993559, ss1627613354, ss1670607387, ss1751999139, ss1932397285, ss1946325098, ss1959393385, ss1967475946, ss2026943047, ss2094792160, ss2095027987, ss2155258590, ss2627947251, ss2632897027, ss2699570729, ss2710747816, ss2905235321, ss3008891932, ss3021384315, ss3349827535, ss3625610985, ss3626767050, ss3630910310, ss3633002236, ss3633702336, ss3634479573, ss3635393555, ss3636163594, ss3637144473, ss3637934880, ss3640186909, ss3641021710, ss3641316264, ss3644577983, ss3651753540, ss3676220805, ss3738599829, ss3744091826, ss3744780331, ss3749899574, ss3772280049, ss3787086285, ss3792207566, ss3797090102, ss3832873429, ss3839999798, ss3877280412, ss3925751776, ss3984449464, ss3984658639, ss3985561895, ss4017563072, ss5204202207, ss5315582661, ss5510543904, ss5652208412, ss5799856772, ss5837325193, ss5943545378 NC_000011.9:120815566:G:A NC_000011.10:120944857:G:A (self)
73272311, 714634, 27273011, 880098, 86580335, 117909223, 6121715302, ss2186281700, ss3027272869, ss3649720107, ss3692735476, ss3725283787, ss3771658629, ss3815225775, ss3845481861, ss3970895010, ss4902363567, ss5289141604, ss5484107025, ss5585746376, ss5752743231, ss5812837047, ss5850180346, ss5921939623 NC_000011.10:120944857:G:A NC_000011.10:120944857:G:A (self)
ss16289304, ss18478287 NT_033899.6:24359353:G:A NC_000011.10:120944857:G:A (self)
ss66927394, ss67081318, ss68104173, ss70525327, ss71055146, ss74958366, ss85089689, ss103007059, ss143837954, ss152967668, ss159171262, ss159971279, ss171179131 NT_033899.8:24377982:G:A NC_000011.10:120944857:G:A (self)
32929170, ss3925751776 NC_000011.9:120815566:G:C NC_000011.10:120944857:G:C (self)
NC_000011.10:120944857:G:T NC_000011.10:120944857:G: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 rs11218067

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