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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.

rs7121446

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:122083949 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.228629 (70879/310018, ALFA)
A=0.266814 (70623/264690, TOPMED)
A=0.268518 (37578/139946, GnomAD) (+ 20 more)
A=0.26241 (20651/78696, PAGE_STUDY)
A=0.04300 (1215/28258, 14KJPN)
A=0.04398 (737/16758, 8.3KJPN)
A=0.2352 (1506/6404, 1000G_30x)
A=0.2342 (1173/5008, 1000G)
A=0.2150 (963/4480, Estonian)
A=0.2348 (905/3854, ALSPAC)
A=0.2392 (887/3708, TWINSUK)
A=0.0435 (127/2922, KOREAN)
A=0.1856 (386/2080, HGDP_Stanford)
A=0.2452 (435/1774, HapMap)
A=0.256 (255/998, GoNL)
A=0.207 (124/600, NorthernSweden)
A=0.185 (40/216, Qatari)
A=0.056 (12/216, Vietnamese)
G=0.384 (66/172, SGDP_PRJ)
A=0.28 (11/40, GENOME_DK)
A=0.11 (2/18, Ancient Sardinia)
G=0.50 (8/16, Siberian)
A=0.50 (8/16, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MIR100HG : Intron Variant
Publications
1 citation
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 315268 G=0.770836 A=0.229164
European Sub 277034 G=0.770259 A=0.229741
African Sub 8636 G=0.6051 A=0.3949
African Others Sub 344 G=0.567 A=0.433
African American Sub 8292 G=0.6067 A=0.3933
Asian Sub 6742 G=0.9439 A=0.0561
East Asian Sub 4870 G=0.9511 A=0.0489
Other Asian Sub 1872 G=0.9252 A=0.0748
Latin American 1 Sub 920 G=0.736 A=0.264
Latin American 2 Sub 1812 G=0.8217 A=0.1783
South Asian Sub 5200 G=0.7696 A=0.2304
Other Sub 14924 G=0.79563 A=0.20437


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 310018 G=0.771371 A=0.228629
Allele Frequency Aggregator European Sub 273762 G=0.770264 A=0.229736
Allele Frequency Aggregator Other Sub 14102 G=0.79528 A=0.20472
Allele Frequency Aggregator African Sub 7480 G=0.6047 A=0.3953
Allele Frequency Aggregator Asian Sub 6742 G=0.9439 A=0.0561
Allele Frequency Aggregator South Asian Sub 5200 G=0.7696 A=0.2304
Allele Frequency Aggregator Latin American 2 Sub 1812 G=0.8217 A=0.1783
Allele Frequency Aggregator Latin American 1 Sub 920 G=0.736 A=0.264
TopMed Global Study-wide 264690 G=0.733186 A=0.266814
gnomAD - Genomes Global Study-wide 139946 G=0.731482 A=0.268518
gnomAD - Genomes European Sub 75824 G=0.77022 A=0.22978
gnomAD - Genomes African Sub 41898 G=0.61046 A=0.38954
gnomAD - Genomes American Sub 13634 G=0.81729 A=0.18271
gnomAD - Genomes Ashkenazi Jewish Sub 3314 G=0.8005 A=0.1995
gnomAD - Genomes East Asian Sub 3130 G=0.9498 A=0.0502
gnomAD - Genomes Other Sub 2146 G=0.7554 A=0.2446
The PAGE Study Global Study-wide 78696 G=0.73759 A=0.26241
The PAGE Study AfricanAmerican Sub 32516 G=0.61155 A=0.38845
The PAGE Study Mexican Sub 10804 G=0.85626 A=0.14374
The PAGE Study Asian Sub 8318 G=0.9477 A=0.0523
The PAGE Study PuertoRican Sub 7918 G=0.7127 A=0.2873
The PAGE Study NativeHawaiian Sub 4534 G=0.8946 A=0.1054
The PAGE Study Cuban Sub 4230 G=0.7546 A=0.2454
The PAGE Study Dominican Sub 3828 G=0.7040 A=0.2960
The PAGE Study CentralAmerican Sub 2450 G=0.8408 A=0.1592
The PAGE Study SouthAmerican Sub 1982 G=0.8557 A=0.1443
The PAGE Study NativeAmerican Sub 1260 G=0.7976 A=0.2024
The PAGE Study SouthAsian Sub 856 G=0.793 A=0.207
14KJPN JAPANESE Study-wide 28258 G=0.95700 A=0.04300
8.3KJPN JAPANESE Study-wide 16758 G=0.95602 A=0.04398
1000Genomes_30x Global Study-wide 6404 G=0.7648 A=0.2352
1000Genomes_30x African Sub 1786 G=0.6187 A=0.3813
1000Genomes_30x Europe Sub 1266 G=0.7559 A=0.2441
1000Genomes_30x South Asian Sub 1202 G=0.7596 A=0.2404
1000Genomes_30x East Asian Sub 1170 G=0.9444 A=0.0556
1000Genomes_30x American Sub 980 G=0.835 A=0.165
1000Genomes Global Study-wide 5008 G=0.7658 A=0.2342
1000Genomes African Sub 1322 G=0.6112 A=0.3888
1000Genomes East Asian Sub 1008 G=0.9415 A=0.0585
1000Genomes Europe Sub 1006 G=0.7584 A=0.2416
1000Genomes South Asian Sub 978 G=0.752 A=0.248
1000Genomes American Sub 694 G=0.836 A=0.164
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7850 A=0.2150
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7652 A=0.2348
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7608 A=0.2392
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9565 A=0.0435
HGDP-CEPH-db Supplement 1 Global Study-wide 2080 G=0.8144 A=0.1856
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.949 A=0.051
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.824 A=0.176
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.763 A=0.237
HGDP-CEPH-db Supplement 1 Europe Sub 318 G=0.764 A=0.236
HGDP-CEPH-db Supplement 1 Africa Sub 240 G=0.542 A=0.458
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.986 A=0.014
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.75 A=0.25
HapMap Global Study-wide 1774 G=0.7548 A=0.2452
HapMap African Sub 692 G=0.650 A=0.350
HapMap American Sub 660 G=0.798 A=0.202
HapMap Asian Sub 250 G=0.936 A=0.064
HapMap Europe Sub 172 G=0.744 A=0.256
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.744 A=0.256
Northern Sweden ACPOP Study-wide 600 G=0.793 A=0.207
Qatari Global Study-wide 216 G=0.815 A=0.185
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.944 A=0.056
SGDP_PRJ Global Study-wide 172 G=0.384 A=0.616
The Danish reference pan genome Danish Study-wide 40 G=0.72 A=0.28
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 18 G=0.89 A=0.11
Siberian Global Study-wide 16 G=0.50 A=0.50
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.122083949G>A
GRCh37.p13 chr 11 NC_000011.9:g.121954657G>A
Gene: MIR100HG, mir-100-let-7a-2-mir-125b-1 cluster host gene (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MIR100HG transcript variant 5 NR_137178.1:n. N/A Intron Variant
MIR100HG transcript variant 1 NR_024430.2:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 2 NR_137175.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 3 NR_137176.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 4 NR_137177.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 6 NR_137179.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 7 NR_137180.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 8 NR_137181.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 9 NR_137182.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 10 NR_137183.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 11 NR_137184.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 12 NR_137185.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 13 NR_137186.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 14 NR_137187.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 15 NR_137188.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 16 NR_137189.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 17 NR_137190.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 18 NR_137191.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 19 NR_137192.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 20 NR_137193.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 21 NR_137194.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 22 NR_137195.1:n. N/A Genic Downstream Transcript Variant
MIR100HG transcript variant 23 NR_137196.1:n. N/A Genic Downstream 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
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
GRCh38.p14 chr 11 NC_000011.10:g.122083949= NC_000011.10:g.122083949G>A
GRCh37.p13 chr 11 NC_000011.9:g.121954657= NC_000011.9:g.121954657G>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#.

134 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10685542 Jul 11, 2003 (116)
2 WUGSC_SSAHASNP ss14426627 Dec 05, 2003 (119)
3 ILLUMINA ss66657631 Dec 01, 2006 (127)
4 ILLUMINA ss67543108 Dec 01, 2006 (127)
5 ILLUMINA ss67916056 Dec 01, 2006 (127)
6 ILLUMINA ss70909564 May 25, 2008 (130)
7 ILLUMINA ss71506893 May 18, 2007 (127)
8 ILLUMINA ss75500272 Dec 07, 2007 (129)
9 ILLUMINA ss79246377 Dec 15, 2007 (130)
10 KRIBB_YJKIM ss84619035 Dec 15, 2007 (130)
11 HGSV ss85259258 Dec 15, 2007 (130)
12 1000GENOMES ss115288000 Jan 25, 2009 (130)
13 ILLUMINA ss122693227 Dec 01, 2009 (131)
14 ILLUMINA ss154405770 Dec 01, 2009 (131)
15 ILLUMINA ss159580952 Dec 01, 2009 (131)
16 ILLUMINA ss160849485 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss171040322 Jul 04, 2010 (132)
18 ILLUMINA ss172247738 Jul 04, 2010 (132)
19 ILLUMINA ss174249717 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss175301003 Jul 04, 2010 (132)
21 BUSHMAN ss203305855 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss207778798 Jul 04, 2010 (132)
23 1000GENOMES ss225503259 Jul 14, 2010 (132)
24 1000GENOMES ss235749054 Jul 15, 2010 (132)
25 1000GENOMES ss242342308 Jul 15, 2010 (132)
26 GMI ss286471976 Apr 25, 2013 (138)
27 ILLUMINA ss481499415 May 04, 2012 (137)
28 ILLUMINA ss482477969 Sep 08, 2015 (146)
29 EXOME_CHIP ss491460668 May 04, 2012 (137)
30 ILLUMINA ss537437263 Sep 08, 2015 (146)
31 TISHKOFF ss562873831 Apr 25, 2013 (138)
32 SSMP ss658399036 Apr 25, 2013 (138)
33 ILLUMINA ss780686325 Sep 08, 2015 (146)
34 ILLUMINA ss783359842 Sep 08, 2015 (146)
35 ILLUMINA ss825576895 Apr 01, 2015 (144)
36 ILLUMINA ss832471059 Sep 08, 2015 (146)
37 ILLUMINA ss833092010 Jul 13, 2019 (153)
38 EVA-GONL ss989042193 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1078105185 Aug 21, 2014 (142)
40 1000GENOMES ss1343274888 Aug 21, 2014 (142)
41 DDI ss1426786044 Apr 01, 2015 (144)
42 EVA_GENOME_DK ss1575998900 Apr 01, 2015 (144)
43 EVA_DECODE ss1598710687 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1627630819 Apr 01, 2015 (144)
45 EVA_UK10K_TWINSUK ss1670624852 Apr 01, 2015 (144)
46 EVA_SVP ss1713291282 Apr 01, 2015 (144)
47 ILLUMINA ss1751999673 Sep 08, 2015 (146)
48 ILLUMINA ss1751999674 Sep 08, 2015 (146)
49 HAMMER_LAB ss1807032037 Sep 08, 2015 (146)
50 ILLUMINA ss1917867821 Feb 12, 2016 (147)
51 WEILL_CORNELL_DGM ss1932405488 Feb 12, 2016 (147)
52 ILLUMINA ss1946325362 Feb 12, 2016 (147)
53 ILLUMINA ss1946325363 Feb 12, 2016 (147)
54 ILLUMINA ss1959394134 Feb 12, 2016 (147)
55 ILLUMINA ss1959394135 Feb 12, 2016 (147)
56 GENOMED ss1967477989 Jul 19, 2016 (147)
57 JJLAB ss2026947230 Sep 14, 2016 (149)
58 USC_VALOUEV ss2155262907 Dec 20, 2016 (150)
59 HUMAN_LONGEVITY ss2186346399 Dec 20, 2016 (150)
60 ILLUMINA ss2632898069 Nov 08, 2017 (151)
61 GRF ss2699575383 Nov 08, 2017 (151)
62 ILLUMINA ss2710747998 Nov 08, 2017 (151)
63 GNOMAD ss2905323415 Nov 08, 2017 (151)
64 AFFY ss2984960190 Nov 08, 2017 (151)
65 AFFY ss2985602542 Nov 08, 2017 (151)
66 SWEGEN ss3008903911 Nov 08, 2017 (151)
67 ILLUMINA ss3021385119 Nov 08, 2017 (151)
68 ILLUMINA ss3021385120 Nov 08, 2017 (151)
69 BIOINF_KMB_FNS_UNIBA ss3027274947 Nov 08, 2017 (151)
70 CSHL ss3349830903 Nov 08, 2017 (151)
71 ILLUMINA ss3625611343 Oct 12, 2018 (152)
72 ILLUMINA ss3626768920 Oct 12, 2018 (152)
73 ILLUMINA ss3626768921 Oct 12, 2018 (152)
74 ILLUMINA ss3633002558 Oct 12, 2018 (152)
75 ILLUMINA ss3633702667 Oct 12, 2018 (152)
76 ILLUMINA ss3634480022 Oct 12, 2018 (152)
77 ILLUMINA ss3634480023 Oct 12, 2018 (152)
78 ILLUMINA ss3635393879 Oct 12, 2018 (152)
79 ILLUMINA ss3636164002 Oct 12, 2018 (152)
80 ILLUMINA ss3637144797 Oct 12, 2018 (152)
81 ILLUMINA ss3637935328 Oct 12, 2018 (152)
82 ILLUMINA ss3638981251 Oct 12, 2018 (152)
83 ILLUMINA ss3639491988 Oct 12, 2018 (152)
84 ILLUMINA ss3640187358 Oct 12, 2018 (152)
85 ILLUMINA ss3640187359 Oct 12, 2018 (152)
86 ILLUMINA ss3641021866 Oct 12, 2018 (152)
87 ILLUMINA ss3641316422 Oct 12, 2018 (152)
88 ILLUMINA ss3642931377 Oct 12, 2018 (152)
89 ILLUMINA ss3644578247 Oct 12, 2018 (152)
90 ILLUMINA ss3644578248 Oct 12, 2018 (152)
91 ILLUMINA ss3651754385 Oct 12, 2018 (152)
92 ILLUMINA ss3651754386 Oct 12, 2018 (152)
93 ILLUMINA ss3653732485 Oct 12, 2018 (152)
94 EGCUT_WGS ss3676233309 Jul 13, 2019 (153)
95 EVA_DECODE ss3692750685 Jul 13, 2019 (153)
96 ILLUMINA ss3725284536 Jul 13, 2019 (153)
97 ACPOP ss3738606301 Jul 13, 2019 (153)
98 ILLUMINA ss3744091960 Jul 13, 2019 (153)
99 ILLUMINA ss3744388950 Jul 13, 2019 (153)
100 ILLUMINA ss3744780780 Jul 13, 2019 (153)
101 ILLUMINA ss3744780781 Jul 13, 2019 (153)
102 EVA ss3749909460 Jul 13, 2019 (153)
103 PAGE_CC ss3771659231 Jul 13, 2019 (153)
104 ILLUMINA ss3772280496 Jul 13, 2019 (153)
105 ILLUMINA ss3772280497 Jul 13, 2019 (153)
106 KHV_HUMAN_GENOMES ss3815234727 Jul 13, 2019 (153)
107 EVA ss3832877253 Apr 26, 2020 (154)
108 HGDP ss3847434179 Apr 26, 2020 (154)
109 SGDP_PRJ ss3877297169 Apr 26, 2020 (154)
110 KRGDB ss3925769320 Apr 26, 2020 (154)
111 EVA ss3984658806 Apr 26, 2021 (155)
112 EVA ss3984658807 Apr 26, 2021 (155)
113 EVA ss3985562457 Apr 26, 2021 (155)
114 EVA ss4017563476 Apr 26, 2021 (155)
115 TOPMED ss4902635088 Apr 26, 2021 (155)
116 TOMMO_GENOMICS ss5204237544 Apr 26, 2021 (155)
117 EVA ss5237502713 Apr 26, 2021 (155)
118 1000G_HIGH_COVERAGE ss5289168586 Oct 16, 2022 (156)
119 EVA ss5315583282 Oct 16, 2022 (156)
120 EVA ss5402743584 Oct 16, 2022 (156)
121 HUGCELL_USP ss5484131232 Oct 16, 2022 (156)
122 EVA ss5510546279 Oct 16, 2022 (156)
123 1000G_HIGH_COVERAGE ss5585786517 Oct 16, 2022 (156)
124 SANFORD_IMAGENETICS ss5624288141 Oct 16, 2022 (156)
125 SANFORD_IMAGENETICS ss5652223681 Oct 16, 2022 (156)
126 TOMMO_GENOMICS ss5752788773 Oct 16, 2022 (156)
127 EVA ss5799857050 Oct 16, 2022 (156)
128 YY_MCH ss5812843773 Oct 16, 2022 (156)
129 EVA ss5837335582 Oct 16, 2022 (156)
130 EVA ss5847651689 Oct 16, 2022 (156)
131 EVA ss5850183564 Oct 16, 2022 (156)
132 EVA ss5921971497 Oct 16, 2022 (156)
133 EVA ss5943561428 Oct 16, 2022 (156)
134 EVA ss5979374854 Oct 16, 2022 (156)
135 1000Genomes NC_000011.9 - 121954657 Oct 12, 2018 (152)
136 1000Genomes_30x NC_000011.10 - 122083949 Oct 16, 2022 (156)
137 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 121954657 Oct 12, 2018 (152)
138 Genetic variation in the Estonian population NC_000011.9 - 121954657 Oct 12, 2018 (152)
139 The Danish reference pan genome NC_000011.9 - 121954657 Apr 26, 2020 (154)
140 gnomAD - Genomes NC_000011.10 - 122083949 Apr 26, 2021 (155)
141 Genome of the Netherlands Release 5 NC_000011.9 - 121954657 Apr 26, 2020 (154)
142 HGDP-CEPH-db Supplement 1 NC_000011.8 - 121459867 Apr 26, 2020 (154)
143 HapMap NC_000011.10 - 122083949 Apr 26, 2020 (154)
144 KOREAN population from KRGDB NC_000011.9 - 121954657 Apr 26, 2020 (154)
145 Northern Sweden NC_000011.9 - 121954657 Jul 13, 2019 (153)
146 The PAGE Study NC_000011.10 - 122083949 Jul 13, 2019 (153)
147 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000011.9 - 121954657 Apr 26, 2021 (155)
148 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 208292 (NC_000011.9:121954656:G:A 44/790)
Row 208293 (NC_000011.9:121954656:G:A 45/788)

- Apr 26, 2021 (155)
149 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 208292 (NC_000011.9:121954656:G:A 44/790)
Row 208293 (NC_000011.9:121954656:G:A 45/788)

- Apr 26, 2021 (155)
150 Qatari NC_000011.9 - 121954657 Apr 26, 2020 (154)
151 SGDP_PRJ NC_000011.9 - 121954657 Apr 26, 2020 (154)
152 Siberian NC_000011.9 - 121954657 Apr 26, 2020 (154)
153 8.3KJPN NC_000011.9 - 121954657 Apr 26, 2021 (155)
154 14KJPN NC_000011.10 - 122083949 Oct 16, 2022 (156)
155 TopMed NC_000011.10 - 122083949 Apr 26, 2021 (155)
156 UK 10K study - Twins NC_000011.9 - 121954657 Oct 12, 2018 (152)
157 A Vietnamese Genetic Variation Database NC_000011.9 - 121954657 Jul 13, 2019 (153)
158 ALFA NC_000011.10 - 122083949 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)
rs59572656 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
112071, ss85259258, ss115288000, ss171040322, ss175301003, ss203305855, ss207778798, ss286471976, ss825576895, ss1598710687, ss1713291282, ss3638981251, ss3639491988, ss3642931377, ss3847434179 NC_000011.8:121459866:G:A NC_000011.10:122083948:G:A (self)
55868014, 31016437, 21971557, 2766453, 13837038, 32946714, 11891166, 788384, 14447418, 29314149, 7779261, 62206851, 31016437, 6881878, ss225503259, ss235749054, ss242342308, ss481499415, ss482477969, ss491460668, ss537437263, ss562873831, ss658399036, ss780686325, ss783359842, ss832471059, ss833092010, ss989042193, ss1078105185, ss1343274888, ss1426786044, ss1575998900, ss1627630819, ss1670624852, ss1751999673, ss1751999674, ss1807032037, ss1917867821, ss1932405488, ss1946325362, ss1946325363, ss1959394134, ss1959394135, ss1967477989, ss2026947230, ss2155262907, ss2632898069, ss2699575383, ss2710747998, ss2905323415, ss2984960190, ss2985602542, ss3008903911, ss3021385119, ss3021385120, ss3349830903, ss3625611343, ss3626768920, ss3626768921, ss3633002558, ss3633702667, ss3634480022, ss3634480023, ss3635393879, ss3636164002, ss3637144797, ss3637935328, ss3640187358, ss3640187359, ss3641021866, ss3641316422, ss3644578247, ss3644578248, ss3651754385, ss3651754386, ss3653732485, ss3676233309, ss3738606301, ss3744091960, ss3744388950, ss3744780780, ss3744780781, ss3749909460, ss3772280496, ss3772280497, ss3832877253, ss3877297169, ss3925769320, ss3984658806, ss3984658807, ss3985562457, ss4017563476, ss5204237544, ss5237502713, ss5315583282, ss5402743584, ss5510546279, ss5624288141, ss5652223681, ss5799857050, ss5837335582, ss5847651689, ss5943561428, ss5979374854 NC_000011.9:121954656:G:A NC_000011.10:122083948:G:A (self)
73312452, 394175101, 716553, 880700, 86625877, 118180744, 8240174179, ss2186346399, ss3027274947, ss3692750685, ss3725284536, ss3771659231, ss3815234727, ss4902635088, ss5289168586, ss5484131232, ss5585786517, ss5752788773, ss5812843773, ss5850183564, ss5921971497 NC_000011.10:122083948:G:A NC_000011.10:122083948:G:A (self)
ss10685542 NT_033899.5:25498334:G:A NC_000011.10:122083948:G:A (self)
ss14426627 NT_033899.6:25498443:G:A NC_000011.10:122083948:G:A (self)
ss66657631, ss67543108, ss67916056, ss70909564, ss71506893, ss75500272, ss79246377, ss84619035, ss122693227, ss154405770, ss159580952, ss160849485, ss172247738, ss174249717 NT_033899.8:25517072:G:A NC_000011.10:122083948:G:A (self)
Help

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

1 citation for rs7121446
PMID Title Author Year Journal
20838585 Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. Smith EN et al. 2010 PLoS 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.post774+babeb33