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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs11846150

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:74290589 (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=0.073286 (19398/264690, TOPMED)
A=0.009219 (2055/222920, ALFA)
A=0.069307 (9692/139842, GnomAD) (+ 8 more)
A=0.10727 (8442/78696, PAGE_STUDY)
A=0.0800 (512/6404, 1000G_30x)
A=0.0727 (364/5008, 1000G)
A=0.0000 (0/3854, ALSPAC)
A=0.0005 (2/3708, TWINSUK)
A=0.1700 (187/1100, HapMap)
A=0.023 (5/216, Qatari)
G=0.42 (15/36, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ABCD4 : 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 222920 G=0.990781 A=0.009219
European Sub 200206 G=0.999236 A=0.000764
African Sub 7496 G=0.7763 A=0.2237
African Others Sub 292 G=0.688 A=0.312
African American Sub 7204 G=0.7798 A=0.2202
Asian Sub 3828 G=1.0000 A=0.0000
East Asian Sub 3096 G=1.0000 A=0.0000
Other Asian Sub 732 G=1.000 A=0.000
Latin American 1 Sub 968 G=0.941 A=0.059
Latin American 2 Sub 2528 G=0.9893 A=0.0107
South Asian Sub 360 G=1.000 A=0.000
Other Sub 7534 G=0.9813 A=0.0187


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.926714 A=0.073286
Allele Frequency Aggregator Total Global 222920 G=0.990781 A=0.009219
Allele Frequency Aggregator European Sub 200206 G=0.999236 A=0.000764
Allele Frequency Aggregator Other Sub 7534 G=0.9813 A=0.0187
Allele Frequency Aggregator African Sub 7496 G=0.7763 A=0.2237
Allele Frequency Aggregator Asian Sub 3828 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 2528 G=0.9893 A=0.0107
Allele Frequency Aggregator Latin American 1 Sub 968 G=0.941 A=0.059
Allele Frequency Aggregator South Asian Sub 360 G=1.000 A=0.000
gnomAD - Genomes Global Study-wide 139842 G=0.930693 A=0.069307
gnomAD - Genomes European Sub 75872 G=0.99934 A=0.00066
gnomAD - Genomes African Sub 41746 G=0.77878 A=0.22122
gnomAD - Genomes American Sub 13622 G=0.97864 A=0.02136
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3126 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=0.9461 A=0.0539
The PAGE Study Global Study-wide 78696 G=0.89273 A=0.10727
The PAGE Study AfricanAmerican Sub 32514 G=0.78228 A=0.21772
The PAGE Study Mexican Sub 10810 G=0.98871 A=0.01129
The PAGE Study Asian Sub 8316 G=0.9998 A=0.0002
The PAGE Study PuertoRican Sub 7916 G=0.9394 A=0.0606
The PAGE Study NativeHawaiian Sub 4534 G=0.9971 A=0.0029
The PAGE Study Cuban Sub 4230 G=0.9669 A=0.0331
The PAGE Study Dominican Sub 3828 G=0.8877 A=0.1123
The PAGE Study CentralAmerican Sub 2450 G=0.9637 A=0.0363
The PAGE Study SouthAmerican Sub 1982 G=0.9793 A=0.0207
The PAGE Study NativeAmerican Sub 1260 G=0.9643 A=0.0357
The PAGE Study SouthAsian Sub 856 G=0.999 A=0.001
1000Genomes_30x Global Study-wide 6404 G=0.9200 A=0.0800
1000Genomes_30x African Sub 1786 G=0.7284 A=0.2716
1000Genomes_30x Europe Sub 1266 G=0.9992 A=0.0008
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.973 A=0.027
1000Genomes Global Study-wide 5008 G=0.9273 A=0.0727
1000Genomes African Sub 1322 G=0.7398 A=0.2602
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9990 A=0.0010
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.973 A=0.027
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=1.0000 A=0.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9995 A=0.0005
HapMap Global Study-wide 1100 G=0.8300 A=0.1700
HapMap African Sub 692 G=0.754 A=0.246
HapMap American Sub 318 G=0.947 A=0.053
HapMap Asian Sub 90 G=1.00 A=0.00
Qatari Global Study-wide 216 G=0.977 A=0.023
SGDP_PRJ Global Study-wide 36 G=0.42 A=0.58
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 14 NC_000014.9:g.74290589G>A
GRCh37.p13 chr 14 NC_000014.8:g.74757292G>A
ABCD4 RefSeqGene NG_032875.1:g.17476C>T
Gene: ABCD4, ATP binding cassette subfamily D member 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCD4 transcript variant 6 NM_001353591.2:c.993-90C>T N/A Intron Variant
ABCD4 transcript variant 7 NM_001353592.2:c.993-90C>T N/A Intron Variant
ABCD4 transcript variant 8 NM_001353593.2:c.858-90C>T N/A Intron Variant
ABCD4 transcript variant 9 NM_001353594.2:c.807-90C>T N/A Intron Variant
ABCD4 transcript variant 10 NM_001353595.2:c.705-90C>T N/A Intron Variant
ABCD4 transcript variant 11 NM_001353596.2:c.705-90C>T N/A Intron Variant
ABCD4 transcript variant 12 NM_001353597.2:c.654-90C>T N/A Intron Variant
ABCD4 transcript variant 13 NM_001353598.2:c.642-90C>T N/A Intron Variant
ABCD4 transcript variant 14 NM_001353599.2:c.642-90C>T N/A Intron Variant
ABCD4 transcript variant 15 NM_001353600.2:c.642-90C>T N/A Intron Variant
ABCD4 transcript variant 16 NM_001353601.2:c.642-90C>T N/A Intron Variant
ABCD4 transcript variant 17 NM_001353602.2:c.330-90C>T N/A Intron Variant
ABCD4 transcript variant 18 NM_001353603.2:c.330-90C>T N/A Intron Variant
ABCD4 transcript variant 19 NM_001353604.2:c.330-90C>T N/A Intron Variant
ABCD4 transcript variant 20 NM_001353605.2:c.330-90C>T N/A Intron Variant
ABCD4 transcript variant 21 NM_001353606.2:c.330-90C>T N/A Intron Variant
ABCD4 transcript variant 22 NM_001353607.2:c.330-90C>T N/A Intron Variant
ABCD4 transcript variant 23 NM_001353608.2:c.330-90C>T N/A Intron Variant
ABCD4 transcript variant 24 NM_001353609.2:c.330-90C>T N/A Intron Variant
ABCD4 transcript variant 25 NM_001353610.2:c.330-90C>T N/A Intron Variant
ABCD4 transcript variant 1 NM_005050.4:c.1119-90C>T N/A Intron Variant
ABCD4 transcript variant 3 NM_020324.3:c.642-90C>T N/A Intron Variant
ABCD4 transcript variant 4 NM_020325.3:c.1119-90C>T N/A Intron Variant
ABCD4 transcript variant 2 NR_003256.3:n. N/A Intron Variant
ABCD4 transcript variant 26 NR_148466.2:n. N/A Intron Variant
ABCD4 transcript variant 27 NR_148467.2:n. N/A Intron Variant
ABCD4 transcript variant 28 NR_148468.2:n. N/A Intron Variant
ABCD4 transcript variant 29 NR_148469.2:n. N/A Intron Variant
ABCD4 transcript variant 30 NR_148470.2:n. N/A Intron Variant
ABCD4 transcript variant 31 NR_148471.2:n. N/A Intron Variant
ABCD4 transcript variant 32 NR_148472.2:n. N/A Intron Variant
ABCD4 transcript variant 33 NR_148473.2:n. N/A Intron Variant
ABCD4 transcript variant 34 NR_148474.2:n. N/A Intron Variant
ABCD4 transcript variant X5 XM_005267942.5:c.705-90C>T N/A Intron Variant
ABCD4 transcript variant X3 XM_011537041.3:c.846-90C>T N/A Intron Variant
ABCD4 transcript variant X1 XM_017021531.3:c.1119-90C…

XM_017021531.3:c.1119-90C>T

 		N/A Intron Variant
ABCD4 transcript variant X7 XM_024449677.2:c.642-90C>T N/A Intron Variant
ABCD4 transcript variant X2 XM_047431637.1:c.1119-90C…

XM_047431637.1:c.1119-90C>T

 		N/A Intron Variant
ABCD4 transcript variant X4 XM_047431639.1:c.1119-90C…

XM_047431639.1:c.1119-90C>T

 		N/A Intron Variant
ABCD4 transcript variant X6 XM_047431640.1:c.1119-90C…

XM_047431640.1:c.1119-90C>T

 		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.

Allele: A (allele ID: 1276195 )
ClinVar Accession Disease Names Clinical Significance
RCV001710140.1 not provided Benign
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 14 NC_000014.9:g.74290589= NC_000014.9:g.74290589G>A
GRCh37.p13 chr 14 NC_000014.8:g.74757292= NC_000014.8:g.74757292G>A
ABCD4 RefSeqGene NG_032875.1:g.17476= NG_032875.1:g.17476C>T
ABCD4 transcript variant 6 NM_001353591.2:c.993-90= NM_001353591.2:c.993-90C>T
ABCD4 transcript variant 7 NM_001353592.2:c.993-90= NM_001353592.2:c.993-90C>T
ABCD4 transcript variant 8 NM_001353593.2:c.858-90= NM_001353593.2:c.858-90C>T
ABCD4 transcript variant 9 NM_001353594.2:c.807-90= NM_001353594.2:c.807-90C>T
ABCD4 transcript variant 10 NM_001353595.2:c.705-90= NM_001353595.2:c.705-90C>T
ABCD4 transcript variant 11 NM_001353596.2:c.705-90= NM_001353596.2:c.705-90C>T
ABCD4 transcript variant 12 NM_001353597.2:c.654-90= NM_001353597.2:c.654-90C>T
ABCD4 transcript variant 13 NM_001353598.2:c.642-90= NM_001353598.2:c.642-90C>T
ABCD4 transcript variant 14 NM_001353599.2:c.642-90= NM_001353599.2:c.642-90C>T
ABCD4 transcript variant 15 NM_001353600.2:c.642-90= NM_001353600.2:c.642-90C>T
ABCD4 transcript variant 16 NM_001353601.2:c.642-90= NM_001353601.2:c.642-90C>T
ABCD4 transcript variant 17 NM_001353602.2:c.330-90= NM_001353602.2:c.330-90C>T
ABCD4 transcript variant 18 NM_001353603.2:c.330-90= NM_001353603.2:c.330-90C>T
ABCD4 transcript variant 19 NM_001353604.2:c.330-90= NM_001353604.2:c.330-90C>T
ABCD4 transcript variant 20 NM_001353605.2:c.330-90= NM_001353605.2:c.330-90C>T
ABCD4 transcript variant 21 NM_001353606.2:c.330-90= NM_001353606.2:c.330-90C>T
ABCD4 transcript variant 22 NM_001353607.2:c.330-90= NM_001353607.2:c.330-90C>T
ABCD4 transcript variant 23 NM_001353608.2:c.330-90= NM_001353608.2:c.330-90C>T
ABCD4 transcript variant 24 NM_001353609.2:c.330-90= NM_001353609.2:c.330-90C>T
ABCD4 transcript variant 25 NM_001353610.2:c.330-90= NM_001353610.2:c.330-90C>T
ABCD4 transcript variant 1 NM_005050.3:c.1119-90= NM_005050.3:c.1119-90C>T
ABCD4 transcript variant 1 NM_005050.4:c.1119-90= NM_005050.4:c.1119-90C>T
ABCD4 transcript variant 3 NM_020324.3:c.642-90= NM_020324.3:c.642-90C>T
ABCD4 transcript variant 4 NM_020325.3:c.1119-90= NM_020325.3:c.1119-90C>T
ABCD4 transcript variant X1 XM_005267935.1:c.1068-90= XM_005267935.1:c.1068-90C>T
ABCD4 transcript variant X2 XM_005267936.1:c.1119-90= XM_005267936.1:c.1119-90C>T
ABCD4 transcript variant X3 XM_005267937.1:c.807-90= XM_005267937.1:c.807-90C>T
ABCD4 transcript variant X4 XM_005267938.1:c.1119-90= XM_005267938.1:c.1119-90C>T
ABCD4 transcript variant X5 XM_005267939.1:c.705-90= XM_005267939.1:c.705-90C>T
ABCD4 transcript variant X6 XM_005267940.1:c.705-90= XM_005267940.1:c.705-90C>T
ABCD4 transcript variant X7 XM_005267941.1:c.705-90= XM_005267941.1:c.705-90C>T
ABCD4 transcript variant X8 XM_005267942.1:c.705-90= XM_005267942.1:c.705-90C>T
ABCD4 transcript variant X5 XM_005267942.5:c.705-90= XM_005267942.5:c.705-90C>T
ABCD4 transcript variant X9 XM_005267943.1:c.1119-90= XM_005267943.1:c.1119-90C>T
ABCD4 transcript variant X10 XM_005267944.1:c.642-90= XM_005267944.1:c.642-90C>T
ABCD4 transcript variant X11 XM_005267945.1:c.642-90= XM_005267945.1:c.642-90C>T
ABCD4 transcript variant X12 XM_005267946.1:c.642-90= XM_005267946.1:c.642-90C>T
ABCD4 transcript variant X13 XM_005267947.1:c.642-90= XM_005267947.1:c.642-90C>T
ABCD4 transcript variant X14 XM_005267948.1:c.642-90= XM_005267948.1:c.642-90C>T
ABCD4 transcript variant X15 XM_005267949.1:c.642-90= XM_005267949.1:c.642-90C>T
ABCD4 transcript variant X16 XM_005267950.1:c.642-90= XM_005267950.1:c.642-90C>T
ABCD4 transcript variant X17 XM_005267951.1:c.330-90= XM_005267951.1:c.330-90C>T
ABCD4 transcript variant X18 XM_005267952.1:c.330-90= XM_005267952.1:c.330-90C>T
ABCD4 transcript variant X19 XM_005267953.1:c.330-90= XM_005267953.1:c.330-90C>T
ABCD4 transcript variant X20 XM_005267954.1:c.330-90= XM_005267954.1:c.330-90C>T
ABCD4 transcript variant X3 XM_011537041.3:c.846-90= XM_011537041.3:c.846-90C>T
ABCD4 transcript variant X1 XM_017021531.3:c.1119-90= XM_017021531.3:c.1119-90C>T
ABCD4 transcript variant X7 XM_024449677.2:c.642-90= XM_024449677.2:c.642-90C>T
ABCD4 transcript variant X2 XM_047431637.1:c.1119-90= XM_047431637.1:c.1119-90C>T
ABCD4 transcript variant X4 XM_047431639.1:c.1119-90= XM_047431639.1:c.1119-90C>T
ABCD4 transcript variant X6 XM_047431640.1:c.1119-90= XM_047431640.1:c.1119-90C>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#.

64 SubSNP, 11 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17513339 Feb 28, 2004 (120)
2 ILLUMINA ss75038819 Dec 07, 2007 (129)
3 ILLUMINA-UK ss118581490 Feb 14, 2009 (130)
4 KRIBB_YJKIM ss119721136 Dec 01, 2009 (131)
5 ILLUMINA ss160009739 Dec 01, 2009 (131)
6 ILLUMINA ss171637545 Jul 04, 2010 (132)
7 BUSHMAN ss200262916 Jul 04, 2010 (132)
8 1000GENOMES ss226650494 Jul 14, 2010 (132)
9 ILLUMINA ss479608864 May 04, 2012 (137)
10 ILLUMINA ss479613827 May 04, 2012 (137)
11 ILLUMINA ss480104729 Sep 08, 2015 (146)
12 ILLUMINA ss484603209 May 04, 2012 (137)
13 ILLUMINA ss536729579 Sep 08, 2015 (146)
14 TISHKOFF ss564187376 Apr 25, 2013 (138)
15 ILLUMINA ss778767706 Sep 08, 2015 (146)
16 ILLUMINA ss782748409 Sep 08, 2015 (146)
17 ILLUMINA ss783715167 Sep 08, 2015 (146)
18 ILLUMINA ss832000483 Sep 08, 2015 (146)
19 ILLUMINA ss834227526 Sep 08, 2015 (146)
20 JMKIDD_LAB ss1079778465 Aug 21, 2014 (142)
21 1000GENOMES ss1351632088 Aug 21, 2014 (142)
22 EVA_UK10K_ALSPAC ss1632075286 Apr 01, 2015 (144)
23 EVA_UK10K_TWINSUK ss1675069319 Apr 01, 2015 (144)
24 ILLUMINA ss1752141904 Sep 08, 2015 (146)
25 HAMMER_LAB ss1807987752 Sep 08, 2015 (146)
26 WEILL_CORNELL_DGM ss1934684470 Feb 12, 2016 (147)
27 ILLUMINA ss1946381099 Feb 12, 2016 (147)
28 ILLUMINA ss1959566597 Feb 12, 2016 (147)
29 HUMAN_LONGEVITY ss2203282730 Dec 20, 2016 (150)
30 ILLUMINA ss2633171298 Nov 08, 2017 (151)
31 ILLUMINA ss2710804899 Nov 08, 2017 (151)
32 GNOMAD ss2929489922 Nov 08, 2017 (151)
33 ILLUMINA ss3625662796 Oct 12, 2018 (152)
34 ILLUMINA ss3627255922 Oct 12, 2018 (152)
35 ILLUMINA ss3631168191 Oct 12, 2018 (152)
36 ILLUMINA ss3633081612 Oct 12, 2018 (152)
37 ILLUMINA ss3633785284 Oct 12, 2018 (152)
38 ILLUMINA ss3634584332 Oct 12, 2018 (152)
39 ILLUMINA ss3635474656 Oct 12, 2018 (152)
40 ILLUMINA ss3636273752 Oct 12, 2018 (152)
41 ILLUMINA ss3637225828 Oct 12, 2018 (152)
42 ILLUMINA ss3638059653 Oct 12, 2018 (152)
43 ILLUMINA ss3639830996 Oct 12, 2018 (152)
44 ILLUMINA ss3640291659 Oct 12, 2018 (152)
45 ILLUMINA ss3643045763 Oct 12, 2018 (152)
46 ILLUMINA ss3644634225 Oct 12, 2018 (152)
47 EVA_DECODE ss3696992095 Jul 13, 2019 (153)
48 ILLUMINA ss3744124463 Jul 13, 2019 (153)
49 ILLUMINA ss3744884949 Jul 13, 2019 (153)
50 PAGE_CC ss3771799390 Jul 13, 2019 (153)
51 ILLUMINA ss3772383725 Jul 13, 2019 (153)
52 KHV_HUMAN_GENOMES ss3817844502 Jul 13, 2019 (153)
53 SGDP_PRJ ss3881836216 Apr 27, 2020 (154)
54 EVA ss4017678603 Apr 27, 2021 (155)
55 TOPMED ss4976093251 Apr 27, 2021 (155)
56 1000G_HIGH_COVERAGE ss5296775810 Oct 16, 2022 (156)
57 EVA ss5416259699 Oct 16, 2022 (156)
58 HUGCELL_USP ss5490766119 Oct 16, 2022 (156)
59 1000G_HIGH_COVERAGE ss5597330859 Oct 16, 2022 (156)
60 SANFORD_IMAGENETICS ss5656533405 Oct 16, 2022 (156)
61 EVA ss5841328506 Oct 16, 2022 (156)
62 EVA ss5847726237 Oct 16, 2022 (156)
63 EVA ss5901974719 Oct 16, 2022 (156)
64 EVA ss5947981598 Oct 16, 2022 (156)
65 1000Genomes NC_000014.8 - 74757292 Oct 12, 2018 (152)
66 1000Genomes_30x NC_000014.9 - 74290589 Oct 16, 2022 (156)
67 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 74757292 Oct 12, 2018 (152)
68 gnomAD - Genomes NC_000014.9 - 74290589 Apr 27, 2021 (155)
69 HapMap NC_000014.9 - 74290589 Apr 27, 2020 (154)
70 The PAGE Study NC_000014.9 - 74290589 Jul 13, 2019 (153)
71 Qatari NC_000014.8 - 74757292 Apr 27, 2020 (154)
72 SGDP_PRJ NC_000014.8 - 74757292 Apr 27, 2020 (154)
73 TopMed NC_000014.9 - 74290589 Apr 27, 2021 (155)
74 UK 10K study - Twins NC_000014.8 - 74757292 Oct 12, 2018 (152)
75 ALFA NC_000014.9 - 74290589 Apr 27, 2021 (155)
76 ClinVar RCV001710140.1 Oct 16, 2022 (156)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss118581490, ss200262916, ss479608864, ss3639830996, ss3643045763 NC_000014.7:73827044:G:A NC_000014.9:74290588:G:A (self)
64636939, 35918651, 16726400, 33853196, 35918651, ss226650494, ss479613827, ss480104729, ss484603209, ss536729579, ss564187376, ss778767706, ss782748409, ss783715167, ss832000483, ss834227526, ss1079778465, ss1351632088, ss1632075286, ss1675069319, ss1752141904, ss1807987752, ss1934684470, ss1946381099, ss1959566597, ss2633171298, ss2710804899, ss2929489922, ss3625662796, ss3627255922, ss3631168191, ss3633081612, ss3633785284, ss3634584332, ss3635474656, ss3636273752, ss3637225828, ss3638059653, ss3640291659, ss3644634225, ss3744124463, ss3744884949, ss3772383725, ss3881836216, ss4017678603, ss5416259699, ss5656533405, ss5841328506, ss5847726237, ss5947981598 NC_000014.8:74757291:G:A NC_000014.9:74290588:G:A (self)
RCV001710140.1, 84856794, 455741044, 1175991, 1020859, 191638910, 6123003447, ss2203282730, ss3696992095, ss3771799390, ss3817844502, ss4976093251, ss5296775810, ss5490766119, ss5597330859, ss5901974719 NC_000014.9:74290588:G:A NC_000014.9:74290588:G:A (self)
ss17513339 NT_026437.10:54677332:G:A NC_000014.9:74290588:G:A (self)
ss75038819, ss119721136, ss160009739, ss171637545 NT_026437.12:55757291:G:A NC_000014.9:74290588: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.

No publications for rs11846150

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