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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.

rs17036076

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:105654112 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.051830 (13719/264690, TOPMED)
G=0.063968 (9970/155860, ALFA)
G=0.050215 (7044/140278, GnomAD) (+ 20 more)
G=0.046534 (6332/136074, GnomAD_exome)
G=0.00004 (1/28258, 14KJPN)
G=0.04249 (597/14050, ExAC)
G=0.0315 (202/6404, 1000G_30x)
G=0.0306 (153/5008, 1000G)
G=0.0424 (190/4480, Estonian)
G=0.0571 (220/3854, ALSPAC)
G=0.0558 (207/3708, TWINSUK)
G=0.0005 (1/1832, Korea1K)
G=0.0544 (75/1378, HapMap)
G=0.078 (78/998, GoNL)
G=0.056 (35/626, Chileans)
G=0.078 (47/600, NorthernSweden)
G=0.084 (45/534, MGP)
G=0.060 (13/216, Qatari)
G=0.05 (2/40, GENOME_DK)
A=0.50 (10/20, SGDP_PRJ)
G=0.50 (10/20, SGDP_PRJ)
A=0.5 (1/2, Siberian)
G=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ARHGEF38 : Synonymous 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 155860 A=0.936032 G=0.063968 0.87653 0.004466 0.119004 2
European Sub 132136 A=0.931941 G=0.068059 0.868832 0.004949 0.126218 1
African Sub 6800 A=0.9679 G=0.0321 0.937941 0.002059 0.06 2
African Others Sub 226 A=0.982 G=0.018 0.964602 0.0 0.035398 0
African American Sub 6574 A=0.9674 G=0.0326 0.937025 0.00213 0.060846 2
Asian Sub 724 A=0.999 G=0.001 0.997238 0.0 0.002762 0
East Asian Sub 530 A=1.000 G=0.000 1.0 0.0 0.0 N/A
Other Asian Sub 194 A=0.995 G=0.005 0.989691 0.0 0.010309 0
Latin American 1 Sub 804 A=0.948 G=0.052 0.900498 0.004975 0.094527 1
Latin American 2 Sub 6352 A=0.9606 G=0.0394 0.922229 0.000945 0.076826 1
South Asian Sub 196 A=0.974 G=0.026 0.94898 0.0 0.05102 0
Other Sub 8848 A=0.9479 G=0.0521 0.89783 0.002034 0.100136 1


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 A=0.948170 G=0.051830
Allele Frequency Aggregator Total Global 155860 A=0.936032 G=0.063968
Allele Frequency Aggregator European Sub 132136 A=0.931941 G=0.068059
Allele Frequency Aggregator Other Sub 8848 A=0.9479 G=0.0521
Allele Frequency Aggregator African Sub 6800 A=0.9679 G=0.0321
Allele Frequency Aggregator Latin American 2 Sub 6352 A=0.9606 G=0.0394
Allele Frequency Aggregator Latin American 1 Sub 804 A=0.948 G=0.052
Allele Frequency Aggregator Asian Sub 724 A=0.999 G=0.001
Allele Frequency Aggregator South Asian Sub 196 A=0.974 G=0.026
gnomAD - Genomes Global Study-wide 140278 A=0.949785 G=0.050215
gnomAD - Genomes European Sub 75944 A=0.94167 G=0.05833
gnomAD - Genomes African Sub 42060 A=0.96831 G=0.03169
gnomAD - Genomes American Sub 13662 A=0.93368 G=0.06632
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.9242 G=0.0758
gnomAD - Genomes East Asian Sub 3134 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2154 A=0.9429 G=0.0571
gnomAD - Exomes Global Study-wide 136074 A=0.953466 G=0.046534
gnomAD - Exomes European Sub 60250 A=0.93972 G=0.06028
gnomAD - Exomes Asian Sub 32782 A=0.98063 G=0.01937
gnomAD - Exomes American Sub 24202 A=0.95649 G=0.04351
gnomAD - Exomes Ashkenazi Jewish Sub 8270 A=0.9320 G=0.0680
gnomAD - Exomes African Sub 6424 A=0.9687 G=0.0313
gnomAD - Exomes Other Sub 4146 A=0.9399 G=0.0601
14KJPN JAPANESE Study-wide 28258 A=0.99996 G=0.00004
ExAC Global Study-wide 14050 A=0.95751 G=0.04249
ExAC Asian Sub 7724 A=0.9714 G=0.0286
ExAC Europe Sub 5396 A=0.9375 G=0.0625
ExAC African Sub 558 A=0.964 G=0.036
ExAC American Sub 188 A=0.941 G=0.059
ExAC Other Sub 184 A=0.957 G=0.043
1000Genomes_30x Global Study-wide 6404 A=0.9685 G=0.0315
1000Genomes_30x African Sub 1786 A=0.9782 G=0.0218
1000Genomes_30x Europe Sub 1266 A=0.9360 G=0.0640
1000Genomes_30x South Asian Sub 1202 A=0.9825 G=0.0175
1000Genomes_30x East Asian Sub 1170 A=1.0000 G=0.0000
1000Genomes_30x American Sub 980 A=0.938 G=0.062
1000Genomes Global Study-wide 5008 A=0.9694 G=0.0306
1000Genomes African Sub 1322 A=0.9788 G=0.0212
1000Genomes East Asian Sub 1008 A=0.9990 G=0.0010
1000Genomes Europe Sub 1006 A=0.9314 G=0.0686
1000Genomes South Asian Sub 978 A=0.985 G=0.015
1000Genomes American Sub 694 A=0.942 G=0.058
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9576 G=0.0424
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9429 G=0.0571
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9442 G=0.0558
Korean Genome Project KOREAN Study-wide 1832 A=0.9995 G=0.0005
HapMap Global Study-wide 1378 A=0.9456 G=0.0544
HapMap African Sub 690 A=0.958 G=0.042
HapMap American Sub 422 A=0.948 G=0.052
HapMap Europe Sub 176 A=0.864 G=0.136
HapMap Asian Sub 90 A=1.00 G=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.922 G=0.078
Chileans Chilean Study-wide 626 A=0.944 G=0.056
Northern Sweden ACPOP Study-wide 600 A=0.922 G=0.078
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.916 G=0.084
Qatari Global Study-wide 216 A=0.940 G=0.060
The Danish reference pan genome Danish Study-wide 40 A=0.95 G=0.05
SGDP_PRJ Global Study-wide 20 A=0.50 G=0.50
Siberian Global Study-wide 2 A=0.5 G=0.5
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 4 NC_000004.12:g.105654112A>G
GRCh37.p13 chr 4 NC_000004.11:g.106575269A>G
Gene: ARHGEF38, Rho guanine nucleotide exchange factor 38 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ARHGEF38 transcript variant 2 NM_017700.2:c. N/A Genic Downstream Transcript Variant
ARHGEF38 transcript variant 1 NM_001242729.2:c.1056A>G L [TTA] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 38 isoform 1 NP_001229658.1:p.Leu352= L (Leu) > L (Leu) Synonymous Variant
ARHGEF38 transcript variant X5 XM_011532050.3:c.561A>G L [TTA] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 38 isoform X1 XP_011530352.1:p.Leu187= L (Leu) > L (Leu) Synonymous Variant
ARHGEF38 transcript variant X7 XM_006714244.4:c.402A>G L [TTA] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 38 isoform X2 XP_006714307.1:p.Leu134= L (Leu) > L (Leu) Synonymous Variant
ARHGEF38 transcript variant X8 XM_011532051.3:c.1056A>G L [TTA] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 38 isoform X3 XP_011530353.1:p.Leu352= L (Leu) > L (Leu) Synonymous Variant
ARHGEF38 transcript variant X1 XR_938750.4:n.1202A>G N/A Non Coding Transcript Variant
ARHGEF38 transcript variant X2 XR_001741247.3:n.1202A>G N/A Non Coding Transcript Variant
ARHGEF38 transcript variant X3 XR_938749.4:n.1202A>G N/A Non Coding Transcript Variant
ARHGEF38 transcript variant X4 XR_007057934.1:n.1202A>G N/A Non Coding Transcript Variant
ARHGEF38 transcript variant X6 XR_938751.4:n.1202A>G N/A Non Coding 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 A= G
GRCh38.p14 chr 4 NC_000004.12:g.105654112= NC_000004.12:g.105654112A>G
GRCh37.p13 chr 4 NC_000004.11:g.106575269= NC_000004.11:g.106575269A>G
ARHGEF38 transcript variant X7 XM_006714244.4:c.402= XM_006714244.4:c.402A>G
ARHGEF38 transcript variant X8 XM_006714244.3:c.402= XM_006714244.3:c.402A>G
ARHGEF38 transcript variant X7 XM_006714244.2:c.402= XM_006714244.2:c.402A>G
ARHGEF38 transcript variant X1 XM_006714244.1:c.402= XM_006714244.1:c.402A>G
ARHGEF38 transcript variant X3 XR_938749.4:n.1202= XR_938749.4:n.1202A>G
ARHGEF38 transcript variant X4 XR_938749.3:n.1216= XR_938749.3:n.1216A>G
ARHGEF38 transcript variant X4 XR_938749.2:n.1217= XR_938749.2:n.1217A>G
ARHGEF38 transcript variant X3 XR_938749.1:n.1300= XR_938749.1:n.1300A>G
ARHGEF38 transcript variant X1 XR_938750.4:n.1202= XR_938750.4:n.1202A>G
ARHGEF38 transcript variant X5 XR_938750.3:n.1216= XR_938750.3:n.1216A>G
ARHGEF38 transcript variant X5 XR_938750.2:n.1217= XR_938750.2:n.1217A>G
ARHGEF38 transcript variant X4 XR_938750.1:n.1300= XR_938750.1:n.1300A>G
ARHGEF38 transcript variant X6 XR_938751.4:n.1202= XR_938751.4:n.1202A>G
ARHGEF38 transcript variant X7 XR_938751.3:n.1218= XR_938751.3:n.1218A>G
ARHGEF38 transcript variant X7 XR_938751.2:n.1219= XR_938751.2:n.1219A>G
ARHGEF38 transcript variant X6 XR_938751.1:n.1300= XR_938751.1:n.1300A>G
ARHGEF38 transcript variant X5 XM_011532050.3:c.561= XM_011532050.3:c.561A>G
ARHGEF38 transcript variant X6 XM_011532050.2:c.561= XM_011532050.2:c.561A>G
ARHGEF38 transcript variant X5 XM_011532050.1:c.561= XM_011532050.1:c.561A>G
ARHGEF38 transcript variant X2 XR_001741247.3:n.1202= XR_001741247.3:n.1202A>G
ARHGEF38 transcript variant X2 XR_001741247.2:n.1216= XR_001741247.2:n.1216A>G
ARHGEF38 transcript variant X3 XR_001741247.1:n.1217= XR_001741247.1:n.1217A>G
ARHGEF38 transcript variant X8 XM_011532051.3:c.1056= XM_011532051.3:c.1056A>G
ARHGEF38 transcript variant X9 XM_011532051.2:c.1056= XM_011532051.2:c.1056A>G
ARHGEF38 transcript variant X8 XM_011532051.1:c.1056= XM_011532051.1:c.1056A>G
ARHGEF38 transcript variant 1 NM_001242729.2:c.1056= NM_001242729.2:c.1056A>G
ARHGEF38 transcript variant 1 NM_001242729.1:c.1056= NM_001242729.1:c.1056A>G
ARHGEF38 transcript variant X4 XR_007057934.1:n.1202= XR_007057934.1:n.1202A>G
rho guanine nucleotide exchange factor 38 isoform X2 XP_006714307.1:p.Leu134= XP_006714307.1:p.Leu134=
rho guanine nucleotide exchange factor 38 isoform X1 XP_011530352.1:p.Leu187= XP_011530352.1:p.Leu187=
rho guanine nucleotide exchange factor 38 isoform X3 XP_011530353.1:p.Leu352= XP_011530353.1:p.Leu352=
rho guanine nucleotide exchange factor 38 isoform 1 NP_001229658.1:p.Leu352= NP_001229658.1:p.Leu352=
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#.

84 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss23280404 Sep 20, 2004 (123)
2 AFFY ss66483165 Dec 01, 2006 (127)
3 AFFY ss76301107 Dec 07, 2007 (129)
4 KRIBB_YJKIM ss83161030 Dec 15, 2007 (130)
5 CORNELL ss86263690 Mar 23, 2008 (129)
6 1000GENOMES ss108201908 Jan 23, 2009 (130)
7 ILLUMINA ss160414041 Dec 01, 2009 (131)
8 COMPLETE_GENOMICS ss166987948 Jul 04, 2010 (132)
9 AFFY ss173181874 Jul 04, 2010 (132)
10 1000GENOMES ss221122418 Jul 14, 2010 (132)
11 1000GENOMES ss232531542 Jul 14, 2010 (132)
12 ILLUMINA ss480153554 May 04, 2012 (137)
13 ILLUMINA ss480163137 May 04, 2012 (137)
14 ILLUMINA ss480872659 Sep 08, 2015 (146)
15 ILLUMINA ss484874803 May 04, 2012 (137)
16 CLINSEQ_SNP ss491858265 May 04, 2012 (137)
17 ILLUMINA ss536936740 Sep 08, 2015 (146)
18 TISHKOFF ss557748721 Apr 25, 2013 (138)
19 ILLUMINA ss778451670 Sep 08, 2015 (146)
20 ILLUMINA ss782883808 Sep 08, 2015 (146)
21 ILLUMINA ss783847522 Sep 08, 2015 (146)
22 ILLUMINA ss832138222 Sep 08, 2015 (146)
23 ILLUMINA ss833907281 Sep 08, 2015 (146)
24 EVA-GONL ss980498751 Aug 21, 2014 (142)
25 1000GENOMES ss1311153809 Aug 21, 2014 (142)
26 EVA_GENOME_DK ss1580704768 Apr 01, 2015 (144)
27 EVA_DECODE ss1590003167 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1610831667 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1653825700 Apr 01, 2015 (144)
30 EVA_EXAC ss1687596045 Apr 01, 2015 (144)
31 EVA_MGP ss1711068257 Apr 01, 2015 (144)
32 EVA_SVP ss1712695966 Apr 01, 2015 (144)
33 ILLUMINA ss1752490997 Sep 08, 2015 (146)
34 WEILL_CORNELL_DGM ss1923736968 Feb 12, 2016 (147)
35 JJLAB ss2022453304 Sep 14, 2016 (149)
36 USC_VALOUEV ss2150582881 Dec 20, 2016 (150)
37 HUMAN_LONGEVITY ss2265787626 Dec 20, 2016 (150)
38 ILLUMINA ss2634159560 Nov 08, 2017 (151)
39 ILLUMINA ss2635135837 Nov 08, 2017 (151)
40 GNOMAD ss2734669325 Nov 08, 2017 (151)
41 GNOMAD ss2747284515 Nov 08, 2017 (151)
42 GNOMAD ss2813357923 Nov 08, 2017 (151)
43 SWEGEN ss2995281970 Nov 08, 2017 (151)
44 BIOINF_KMB_FNS_UNIBA ss3025002124 Nov 08, 2017 (151)
45 CSHL ss3345881925 Nov 08, 2017 (151)
46 ILLUMINA ss3629034195 Oct 12, 2018 (152)
47 ILLUMINA ss3632093645 Oct 12, 2018 (152)
48 ILLUMINA ss3633344525 Oct 12, 2018 (152)
49 ILLUMINA ss3634063870 Oct 12, 2018 (152)
50 ILLUMINA ss3634964996 Oct 12, 2018 (152)
51 ILLUMINA ss3635746573 Oct 12, 2018 (152)
52 ILLUMINA ss3636669462 Oct 12, 2018 (152)
53 ILLUMINA ss3637499115 Oct 12, 2018 (152)
54 ILLUMINA ss3640672289 Oct 12, 2018 (152)
55 EGCUT_WGS ss3663180399 Jul 13, 2019 (153)
56 EVA_DECODE ss3712742309 Jul 13, 2019 (153)
57 ACPOP ss3731460466 Jul 13, 2019 (153)
58 ILLUMINA ss3745265259 Jul 13, 2019 (153)
59 ILLUMINA ss3772759771 Jul 13, 2019 (153)
60 KHV_HUMAN_GENOMES ss3805365987 Jul 13, 2019 (153)
61 EVA ss3825662325 Apr 26, 2020 (154)
62 EVA ss3828724672 Apr 26, 2020 (154)
63 SGDP_PRJ ss3859700668 Apr 26, 2020 (154)
64 KOGIC ss3954817990 Apr 26, 2020 (154)
65 FSA-LAB ss3984290973 Apr 26, 2021 (155)
66 FSA-LAB ss3984290974 Apr 26, 2021 (155)
67 EVA ss3986288367 Apr 26, 2021 (155)
68 EVA ss4017161493 Apr 26, 2021 (155)
69 TOPMED ss4626196434 Apr 26, 2021 (155)
70 EVA ss5237008224 Apr 26, 2021 (155)
71 1000G_HIGH_COVERAGE ss5260439759 Oct 13, 2022 (156)
72 EVA ss5351249542 Oct 13, 2022 (156)
73 HUGCELL_USP ss5459065046 Oct 13, 2022 (156)
74 EVA ss5507659849 Oct 13, 2022 (156)
75 1000G_HIGH_COVERAGE ss5542187069 Oct 13, 2022 (156)
76 EVA ss5624141732 Oct 13, 2022 (156)
77 SANFORD_IMAGENETICS ss5635753104 Oct 13, 2022 (156)
78 TOMMO_GENOMICS ss5702053995 Oct 13, 2022 (156)
79 EVA ss5799623242 Oct 13, 2022 (156)
80 EVA ss5800117318 Oct 13, 2022 (156)
81 EVA ss5844482973 Oct 13, 2022 (156)
82 EVA ss5848614442 Oct 13, 2022 (156)
83 EVA ss5864850303 Oct 13, 2022 (156)
84 EVA ss5964149097 Oct 13, 2022 (156)
85 1000Genomes NC_000004.11 - 106575269 Oct 12, 2018 (152)
86 1000Genomes_30x NC_000004.12 - 105654112 Oct 13, 2022 (156)
87 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 106575269 Oct 12, 2018 (152)
88 Chileans NC_000004.11 - 106575269 Apr 26, 2020 (154)
89 Genetic variation in the Estonian population NC_000004.11 - 106575269 Oct 12, 2018 (152)
90 ExAC NC_000004.11 - 106575269 Oct 12, 2018 (152)
91 The Danish reference pan genome NC_000004.11 - 106575269 Apr 26, 2020 (154)
92 gnomAD - Genomes NC_000004.12 - 105654112 Apr 26, 2021 (155)
93 gnomAD - Exomes NC_000004.11 - 106575269 Jul 13, 2019 (153)
94 Genome of the Netherlands Release 5 NC_000004.11 - 106575269 Apr 26, 2020 (154)
95 HapMap NC_000004.12 - 105654112 Apr 26, 2020 (154)
96 Korean Genome Project NC_000004.12 - 105654112 Apr 26, 2020 (154)
97 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 106575269 Apr 26, 2020 (154)
98 Northern Sweden NC_000004.11 - 106575269 Jul 13, 2019 (153)
99 Qatari NC_000004.11 - 106575269 Apr 26, 2020 (154)
100 SGDP_PRJ NC_000004.11 - 106575269 Apr 26, 2020 (154)
101 Siberian NC_000004.11 - 106575269 Apr 26, 2020 (154)
102 14KJPN NC_000004.12 - 105654112 Oct 13, 2022 (156)
103 TopMed NC_000004.12 - 105654112 Apr 26, 2021 (155)
104 UK 10K study - Twins NC_000004.11 - 106575269 Oct 12, 2018 (152)
105 ALFA NC_000004.12 - 105654112 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)
rs60598582 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss108201908, ss166987948, ss480153554, ss491858265, ss1590003167, ss1712695966, ss2635135837 NC_000004.10:106794717:A:G NC_000004.12:105654111:A:G (self)
22602661, 12576846, 323711, 8918647, 7569251, 6869707, 3777581, 5561200, 184017, 4745331, 5778898, 11717648, 3099235, 12576846, ss221122418, ss232531542, ss480163137, ss480872659, ss484874803, ss536936740, ss557748721, ss778451670, ss782883808, ss783847522, ss832138222, ss833907281, ss980498751, ss1311153809, ss1580704768, ss1610831667, ss1653825700, ss1687596045, ss1711068257, ss1752490997, ss1923736968, ss2022453304, ss2150582881, ss2634159560, ss2734669325, ss2747284515, ss2813357923, ss2995281970, ss3345881925, ss3629034195, ss3632093645, ss3633344525, ss3634063870, ss3634964996, ss3635746573, ss3636669462, ss3637499115, ss3640672289, ss3663180399, ss3731460466, ss3745265259, ss3772759771, ss3825662325, ss3828724672, ss3859700668, ss3984290973, ss3984290974, ss3986288367, ss4017161493, ss5351249542, ss5507659849, ss5624141732, ss5635753104, ss5799623242, ss5800117318, ss5844482973, ss5848614442, ss5964149097 NC_000004.11:106575268:A:G NC_000004.12:105654111:A:G (self)
29713004, 160127041, 2678103, 11195991, 35891099, 463573990, 15218305849, ss2265787626, ss3025002124, ss3712742309, ss3805365987, ss3954817990, ss4626196434, ss5237008224, ss5260439759, ss5459065046, ss5542187069, ss5702053995, ss5864850303 NC_000004.12:105654111:A:G NC_000004.12:105654111:A:G (self)
ss23280404, ss66483165, ss76301107, ss83161030, ss86263690, ss160414041, ss173181874 NT_016354.19:31122989:A:G NC_000004.12:105654111:A:G (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 rs17036076

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.post820+afb47a3d