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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.

rs11544238

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:57476372 (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>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.391086 (135300/345960, ALFA)
C=0.446390 (118155/264690, TOPMED)
C=0.32921 (25871/78584, PAGE_STUDY) (+ 23 more)
A=0.46068 (13018/28258, 14KJPN)
A=0.46575 (7806/16760, 8.3KJPN)
C=0.48939 (6365/13006, GO-ESP)
C=0.3674 (2353/6404, 1000G_30x)
C=0.3702 (1854/5008, 1000G)
A=0.4600 (2061/4480, Estonian)
A=0.3552 (1369/3854, ALSPAC)
A=0.3619 (1342/3708, TWINSUK)
C=0.4030 (1180/2928, KOREAN)
C=0.4126 (859/2082, HGDP_Stanford)
C=0.3855 (727/1886, HapMap)
C=0.4141 (757/1828, Korea1K)
A=0.309 (308/998, GoNL)
C=0.308 (243/790, PRJEB37584)
A=0.417 (250/600, NorthernSweden)
C=0.451 (241/534, MGP)
A=0.324 (109/336, SGDP_PRJ)
A=0.500 (151/302, FINRISK)
C=0.500 (151/302, FINRISK)
A=0.407 (88/216, Qatari)
C=0.49 (40/82, Ancient Sardinia)
A=0.42 (17/40, GENOME_DK)
A=0.30 (12/40, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ARHGAP9 : Missense 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 346104 A=0.391102 C=0.608898, G=0.000000
European Sub 295826 A=0.360181 C=0.639819, G=0.000000
African Sub 8306 A=0.8105 C=0.1895, G=0.0000
African Others Sub 312 A=0.933 C=0.067, G=0.000
African American Sub 7994 A=0.8057 C=0.1943, G=0.0000
Asian Sub 6814 A=0.6685 C=0.3315, G=0.0000
East Asian Sub 4860 A=0.6428 C=0.3572, G=0.0000
Other Asian Sub 1954 A=0.7323 C=0.2677, G=0.0000
Latin American 1 Sub 1382 A=0.5680 C=0.4320, G=0.0000
Latin American 2 Sub 6854 A=0.6547 C=0.3453, G=0.0000
South Asian Sub 5158 A=0.5163 C=0.4837, G=0.0000
Other Sub 21764 A=0.44059 C=0.55941, G=0.00000


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 345960 A=0.391086 C=0.608914, G=0.000000
Allele Frequency Aggregator European Sub 295704 A=0.360174 C=0.639826, G=0.000000
Allele Frequency Aggregator Other Sub 21756 A=0.44052 C=0.55948, G=0.00000
Allele Frequency Aggregator African Sub 8292 A=0.8105 C=0.1895, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 6854 A=0.6547 C=0.3453, G=0.0000
Allele Frequency Aggregator Asian Sub 6814 A=0.6685 C=0.3315, G=0.0000
Allele Frequency Aggregator South Asian Sub 5158 A=0.5163 C=0.4837, G=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1382 A=0.5680 C=0.4320, G=0.0000
TopMed Global Study-wide 264690 A=0.553610 C=0.446390
The PAGE Study Global Study-wide 78584 A=0.67079 C=0.32921
The PAGE Study AfricanAmerican Sub 32432 A=0.79264 C=0.20736
The PAGE Study Mexican Sub 10808 A=0.64573 C=0.35427
The PAGE Study Asian Sub 8314 A=0.5007 C=0.4993
The PAGE Study PuertoRican Sub 7914 A=0.5581 C=0.4419
The PAGE Study NativeHawaiian Sub 4518 A=0.7021 C=0.2979
The PAGE Study Cuban Sub 4228 A=0.4577 C=0.5423
The PAGE Study Dominican Sub 3826 A=0.6147 C=0.3853
The PAGE Study CentralAmerican Sub 2448 A=0.6626 C=0.3374
The PAGE Study SouthAmerican Sub 1982 A=0.6468 C=0.3532
The PAGE Study NativeAmerican Sub 1258 A=0.5072 C=0.4928
The PAGE Study SouthAsian Sub 856 A=0.521 C=0.479
14KJPN JAPANESE Study-wide 28258 A=0.46068 C=0.53932
8.3KJPN JAPANESE Study-wide 16760 A=0.46575 C=0.53425
GO Exome Sequencing Project Global Study-wide 13006 A=0.51061 C=0.48939
GO Exome Sequencing Project European American Sub 8600 A=0.3648 C=0.6352
GO Exome Sequencing Project African American Sub 4406 A=0.7953 C=0.2047
1000Genomes_30x Global Study-wide 6404 A=0.6326 C=0.3674
1000Genomes_30x African Sub 1786 A=0.8768 C=0.1232
1000Genomes_30x Europe Sub 1266 A=0.3641 C=0.6359
1000Genomes_30x South Asian Sub 1202 A=0.5308 C=0.4692
1000Genomes_30x East Asian Sub 1170 A=0.6752 C=0.3248
1000Genomes_30x American Sub 980 A=0.608 C=0.392
1000Genomes Global Study-wide 5008 A=0.6298 C=0.3702
1000Genomes African Sub 1322 A=0.8729 C=0.1271
1000Genomes East Asian Sub 1008 A=0.6746 C=0.3254
1000Genomes Europe Sub 1006 A=0.3757 C=0.6243
1000Genomes South Asian Sub 978 A=0.532 C=0.468
1000Genomes American Sub 694 A=0.608 C=0.392
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.4600 C=0.5400
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.3552 C=0.6448
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.3619 C=0.6381
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.5970 C=0.4030
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 A=0.5874 C=0.4126
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 A=0.643 C=0.357
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.512 C=0.488
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.349 C=0.651
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.372 C=0.628
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.901 C=0.099
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.856 C=0.144
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.92 C=0.08
HapMap Global Study-wide 1886 A=0.6145 C=0.3855
HapMap American Sub 768 A=0.553 C=0.447
HapMap African Sub 690 A=0.778 C=0.222
HapMap Asian Sub 252 A=0.563 C=0.437
HapMap Europe Sub 176 A=0.312 C=0.688
Korean Genome Project KOREAN Study-wide 1828 A=0.5859 C=0.4141
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.309 C=0.691
CNV burdens in cranial meningiomas Global Study-wide 790 A=0.692 C=0.308
CNV burdens in cranial meningiomas CRM Sub 790 A=0.692 C=0.308
Northern Sweden ACPOP Study-wide 600 A=0.417 C=0.583
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.549 C=0.451
SGDP_PRJ Global Study-wide 336 A=0.324 C=0.676
FINRISK Finnish from FINRISK project Study-wide 302 A=0.500 C=0.500
Qatari Global Study-wide 216 A=0.407 C=0.593
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 82 A=0.51 C=0.49
The Danish reference pan genome Danish Study-wide 40 A=0.42 C=0.57
Siberian Global Study-wide 40 A=0.30 C=0.70
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 12 NC_000012.12:g.57476372A>C
GRCh38.p14 chr 12 NC_000012.12:g.57476372A>G
GRCh37.p13 chr 12 NC_000012.11:g.57870155A>C
GRCh37.p13 chr 12 NC_000012.11:g.57870155A>G
ARHGAP9 RefSeqGene NG_023205.2:g.17443T>G
ARHGAP9 RefSeqGene NG_023205.2:g.17443T>C
Gene: ARHGAP9, Rho GTPase activating protein 9 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ARHGAP9 transcript variant 1 NM_032496.4:c.1108T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 1 NP_115885.2:p.Ser370Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant 1 NM_032496.4:c.1108T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 1 NP_115885.2:p.Ser370Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant 11 NM_001367426.1:c.556T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 3 NP_001354355.1:p.Ser186Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant 11 NM_001367426.1:c.556T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 3 NP_001354355.1:p.Ser186Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant 7 NM_001367422.1:c.556T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 7 NP_001354351.1:p.Ser186Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant 7 NM_001367422.1:c.556T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 7 NP_001354351.1:p.Ser186Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant 10 NM_001367425.1:c.463T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 10 NP_001354354.1:p.Ser155Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant 10 NM_001367425.1:c.463T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 10 NP_001354354.1:p.Ser155Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant 8 NM_001367423.1:c.463T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 8 NP_001354352.1:p.Ser155Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant 8 NM_001367423.1:c.463T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 8 NP_001354352.1:p.Ser155Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant 9 NM_001367424.1:c.556T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 9 NP_001354353.1:p.Ser186Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant 9 NM_001367424.1:c.556T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 9 NP_001354353.1:p.Ser186Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant 4 NM_001319850.2:c.1108T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 4 NP_001306779.2:p.Ser370Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant 4 NM_001319850.2:c.1108T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 4 NP_001306779.2:p.Ser370Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant 3 NM_001080156.3:c.556T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 3 NP_001073625.1:p.Ser186Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant 3 NM_001080156.3:c.556T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 3 NP_001073625.1:p.Ser186Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant 2 NM_001080157.2:c.1108T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 2 NP_001073626.1:p.Ser370Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant 2 NM_001080157.2:c.1108T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 2 NP_001073626.1:p.Ser370Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant 6 NM_001319852.2:c.556T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 6 NP_001306781.1:p.Ser186Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant 6 NM_001319852.2:c.556T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 6 NP_001306781.1:p.Ser186Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant 5 NM_001319851.2:c.118T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 5 NP_001306780.1:p.Ser40Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant 5 NM_001319851.2:c.118T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform 5 NP_001306780.1:p.Ser40Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant X1 XM_011538656.3:c.1108T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X1 XP_011536958.1:p.Ser370Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant X1 XM_011538656.3:c.1108T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X1 XP_011536958.1:p.Ser370Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant X2 XM_047429329.1:c.1252T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X2 XP_047285285.1:p.Ser418Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant X2 XM_047429329.1:c.1252T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X2 XP_047285285.1:p.Ser418Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant X3 XM_047429330.1:c.1108T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X3 XP_047285286.1:p.Ser370Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant X3 XM_047429330.1:c.1108T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X3 XP_047285286.1:p.Ser370Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant X4 XM_047429331.1:c.1108T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X3 XP_047285287.1:p.Ser370Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant X4 XM_047429331.1:c.1108T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X3 XP_047285287.1:p.Ser370Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant X5 XM_047429332.1:c.1108T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X1 XP_047285288.1:p.Ser370Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant X5 XM_047429332.1:c.1108T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X1 XP_047285288.1:p.Ser370Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant X6 XM_047429333.1:c.1108T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X1 XP_047285289.1:p.Ser370Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant X6 XM_047429333.1:c.1108T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X1 XP_047285289.1:p.Ser370Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant X7 XM_011538659.3:c.1108T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X4 XP_011536961.1:p.Ser370Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant X7 XM_011538659.3:c.1108T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X4 XP_011536961.1:p.Ser370Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant X8 XM_047429334.1:c.1252T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X5 XP_047285290.1:p.Ser418Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant X8 XM_047429334.1:c.1252T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X5 XP_047285290.1:p.Ser418Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant X9 XM_047429335.1:c.1108T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X6 XP_047285291.1:p.Ser370Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant X9 XM_047429335.1:c.1108T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X6 XP_047285291.1:p.Ser370Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant X10 XM_005269083.3:c.556T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X7 XP_005269140.1:p.Ser186Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant X10 XM_005269083.3:c.556T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X7 XP_005269140.1:p.Ser186Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant X11 XM_047429336.1:c.556T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X7 XP_047285292.1:p.Ser186Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant X11 XM_047429336.1:c.556T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X7 XP_047285292.1:p.Ser186Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant X12 XM_047429337.1:c.556T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X8 XP_047285293.1:p.Ser186Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant X12 XM_047429337.1:c.556T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X8 XP_047285293.1:p.Ser186Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant X13 XM_047429338.1:c.1252T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X9 XP_047285294.1:p.Ser418Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant X13 XM_047429338.1:c.1252T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X9 XP_047285294.1:p.Ser418Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant X14 XM_047429339.1:c.1252T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X10 XP_047285295.1:p.Ser418Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant X14 XM_047429339.1:c.1252T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X10 XP_047285295.1:p.Ser418Pro S (Ser) > P (Pro) Missense Variant
ARHGAP9 transcript variant X15 XM_047429340.1:c.556T>G S [TCA] > A [GCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X11 XP_047285296.1:p.Ser186Ala S (Ser) > A (Ala) Missense Variant
ARHGAP9 transcript variant X15 XM_047429340.1:c.556T>C S [TCA] > P [CCA] Coding Sequence Variant
rho GTPase-activating protein 9 isoform X11 XP_047285296.1:p.Ser186Pro S (Ser) > P (Pro) Missense 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: C (allele ID: 16228 )
ClinVar Accession Disease Names Clinical Significance
RCV000001248.5 Coronary artery spasm 3, susceptibility to Uncertain-Significance
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= C G
GRCh38.p14 chr 12 NC_000012.12:g.57476372= NC_000012.12:g.57476372A>C NC_000012.12:g.57476372A>G
GRCh37.p13 chr 12 NC_000012.11:g.57870155= NC_000012.11:g.57870155A>C NC_000012.11:g.57870155A>G
ARHGAP9 RefSeqGene NG_023205.2:g.17443= NG_023205.2:g.17443T>G NG_023205.2:g.17443T>C
ARHGAP9 transcript variant 1 NM_032496.4:c.1108= NM_032496.4:c.1108T>G NM_032496.4:c.1108T>C
ARHGAP9 transcript variant 1 NM_032496.3:c.1108= NM_032496.3:c.1108T>G NM_032496.3:c.1108T>C
ARHGAP9 transcript variant 1 NM_032496.2:c.1108= NM_032496.2:c.1108T>G NM_032496.2:c.1108T>C
ARHGAP9 transcript variant 3 NM_001080156.3:c.556= NM_001080156.3:c.556T>G NM_001080156.3:c.556T>C
ARHGAP9 transcript variant 3 NM_001080156.2:c.556= NM_001080156.2:c.556T>G NM_001080156.2:c.556T>C
ARHGAP9 transcript variant 3 NM_001080156.1:c.556= NM_001080156.1:c.556T>G NM_001080156.1:c.556T>C
ARHGAP9 transcript variant 4 NM_001319850.2:c.1108= NM_001319850.2:c.1108T>G NM_001319850.2:c.1108T>C
ARHGAP9 transcript variant 4 NM_001319850.1:c.1321= NM_001319850.1:c.1321T>G NM_001319850.1:c.1321T>C
ARHGAP9 transcript variant 2 NM_001080157.2:c.1108= NM_001080157.2:c.1108T>G NM_001080157.2:c.1108T>C
ARHGAP9 transcript variant 2 NM_001080157.1:c.1108= NM_001080157.1:c.1108T>G NM_001080157.1:c.1108T>C
ARHGAP9 transcript variant 5 NM_001319851.2:c.118= NM_001319851.2:c.118T>G NM_001319851.2:c.118T>C
ARHGAP9 transcript variant 5 NM_001319851.1:c.118= NM_001319851.1:c.118T>G NM_001319851.1:c.118T>C
ARHGAP9 transcript variant 6 NM_001319852.2:c.556= NM_001319852.2:c.556T>G NM_001319852.2:c.556T>C
ARHGAP9 transcript variant 6 NM_001319852.1:c.556= NM_001319852.1:c.556T>G NM_001319852.1:c.556T>C
ARHGAP9 transcript variant 11 NM_001367426.1:c.556= NM_001367426.1:c.556T>G NM_001367426.1:c.556T>C
ARHGAP9 transcript variant 7 NM_001367422.1:c.556= NM_001367422.1:c.556T>G NM_001367422.1:c.556T>C
ARHGAP9 transcript variant 8 NM_001367423.1:c.463= NM_001367423.1:c.463T>G NM_001367423.1:c.463T>C
ARHGAP9 transcript variant 9 NM_001367424.1:c.556= NM_001367424.1:c.556T>G NM_001367424.1:c.556T>C
ARHGAP9 transcript variant 10 NM_001367425.1:c.463= NM_001367425.1:c.463T>G NM_001367425.1:c.463T>C
ARHGAP9 transcript variant X1 XM_011538656.3:c.1108= XM_011538656.3:c.1108T>G XM_011538656.3:c.1108T>C
ARHGAP9 transcript variant X1 XM_011538656.2:c.1108= XM_011538656.2:c.1108T>G XM_011538656.2:c.1108T>C
ARHGAP9 transcript variant X1 XM_011538656.1:c.1108= XM_011538656.1:c.1108T>G XM_011538656.1:c.1108T>C
ARHGAP9 transcript variant X7 XM_011538659.3:c.1108= XM_011538659.3:c.1108T>G XM_011538659.3:c.1108T>C
ARHGAP9 transcript variant X4 XM_011538659.2:c.1108= XM_011538659.2:c.1108T>G XM_011538659.2:c.1108T>C
ARHGAP9 transcript variant X5 XM_011538659.1:c.1108= XM_011538659.1:c.1108T>G XM_011538659.1:c.1108T>C
ARHGAP9 transcript variant X10 XM_005269083.3:c.556= XM_005269083.3:c.556T>G XM_005269083.3:c.556T>C
ARHGAP9 transcript variant X6 XM_005269083.2:c.556= XM_005269083.2:c.556T>G XM_005269083.2:c.556T>C
ARHGAP9 transcript variant X6 XM_005269083.1:c.556= XM_005269083.1:c.556T>G XM_005269083.1:c.556T>C
ARHGAP9 transcript variant X2 XM_047429329.1:c.1252= XM_047429329.1:c.1252T>G XM_047429329.1:c.1252T>C
ARHGAP9 transcript variant X4 XM_047429331.1:c.1108= XM_047429331.1:c.1108T>G XM_047429331.1:c.1108T>C
ARHGAP9 transcript variant X8 XM_047429334.1:c.1252= XM_047429334.1:c.1252T>G XM_047429334.1:c.1252T>C
ARHGAP9 transcript variant X5 XM_047429332.1:c.1108= XM_047429332.1:c.1108T>G XM_047429332.1:c.1108T>C
ARHGAP9 transcript variant X3 XM_047429330.1:c.1108= XM_047429330.1:c.1108T>G XM_047429330.1:c.1108T>C
ARHGAP9 transcript variant X9 XM_047429335.1:c.1108= XM_047429335.1:c.1108T>G XM_047429335.1:c.1108T>C
ARHGAP9 transcript variant X6 XM_047429333.1:c.1108= XM_047429333.1:c.1108T>G XM_047429333.1:c.1108T>C
ARHGAP9 transcript variant X11 XM_047429336.1:c.556= XM_047429336.1:c.556T>G XM_047429336.1:c.556T>C
ARHGAP9 transcript variant X12 XM_047429337.1:c.556= XM_047429337.1:c.556T>G XM_047429337.1:c.556T>C
ARHGAP9 transcript variant X15 XM_047429340.1:c.556= XM_047429340.1:c.556T>G XM_047429340.1:c.556T>C
ARHGAP9 transcript variant X13 XM_047429338.1:c.1252= XM_047429338.1:c.1252T>G XM_047429338.1:c.1252T>C
ARHGAP9 transcript variant X14 XM_047429339.1:c.1252= XM_047429339.1:c.1252T>G XM_047429339.1:c.1252T>C
rho GTPase-activating protein 9 isoform 1 NP_115885.2:p.Ser370= NP_115885.2:p.Ser370Ala NP_115885.2:p.Ser370Pro
rho GTPase-activating protein 9 isoform 3 NP_001073625.1:p.Ser186= NP_001073625.1:p.Ser186Ala NP_001073625.1:p.Ser186Pro
rho GTPase-activating protein 9 isoform 4 NP_001306779.2:p.Ser370= NP_001306779.2:p.Ser370Ala NP_001306779.2:p.Ser370Pro
rho GTPase-activating protein 9 isoform 2 NP_001073626.1:p.Ser370= NP_001073626.1:p.Ser370Ala NP_001073626.1:p.Ser370Pro
rho GTPase-activating protein 9 isoform 5 NP_001306780.1:p.Ser40= NP_001306780.1:p.Ser40Ala NP_001306780.1:p.Ser40Pro
rho GTPase-activating protein 9 isoform 6 NP_001306781.1:p.Ser186= NP_001306781.1:p.Ser186Ala NP_001306781.1:p.Ser186Pro
rho GTPase-activating protein 9 isoform 3 NP_001354355.1:p.Ser186= NP_001354355.1:p.Ser186Ala NP_001354355.1:p.Ser186Pro
rho GTPase-activating protein 9 isoform 7 NP_001354351.1:p.Ser186= NP_001354351.1:p.Ser186Ala NP_001354351.1:p.Ser186Pro
rho GTPase-activating protein 9 isoform 8 NP_001354352.1:p.Ser155= NP_001354352.1:p.Ser155Ala NP_001354352.1:p.Ser155Pro
rho GTPase-activating protein 9 isoform 9 NP_001354353.1:p.Ser186= NP_001354353.1:p.Ser186Ala NP_001354353.1:p.Ser186Pro
rho GTPase-activating protein 9 isoform 10 NP_001354354.1:p.Ser155= NP_001354354.1:p.Ser155Ala NP_001354354.1:p.Ser155Pro
rho GTPase-activating protein 9 isoform X1 XP_011536958.1:p.Ser370= XP_011536958.1:p.Ser370Ala XP_011536958.1:p.Ser370Pro
rho GTPase-activating protein 9 isoform X4 XP_011536961.1:p.Ser370= XP_011536961.1:p.Ser370Ala XP_011536961.1:p.Ser370Pro
rho GTPase-activating protein 9 isoform X7 XP_005269140.1:p.Ser186= XP_005269140.1:p.Ser186Ala XP_005269140.1:p.Ser186Pro
rho GTPase-activating protein 9 isoform X2 XP_047285285.1:p.Ser418= XP_047285285.1:p.Ser418Ala XP_047285285.1:p.Ser418Pro
rho GTPase-activating protein 9 isoform X3 XP_047285287.1:p.Ser370= XP_047285287.1:p.Ser370Ala XP_047285287.1:p.Ser370Pro
rho GTPase-activating protein 9 isoform X5 XP_047285290.1:p.Ser418= XP_047285290.1:p.Ser418Ala XP_047285290.1:p.Ser418Pro
rho GTPase-activating protein 9 isoform X1 XP_047285288.1:p.Ser370= XP_047285288.1:p.Ser370Ala XP_047285288.1:p.Ser370Pro
rho GTPase-activating protein 9 isoform X3 XP_047285286.1:p.Ser370= XP_047285286.1:p.Ser370Ala XP_047285286.1:p.Ser370Pro
rho GTPase-activating protein 9 isoform X6 XP_047285291.1:p.Ser370= XP_047285291.1:p.Ser370Ala XP_047285291.1:p.Ser370Pro
rho GTPase-activating protein 9 isoform X1 XP_047285289.1:p.Ser370= XP_047285289.1:p.Ser370Ala XP_047285289.1:p.Ser370Pro
rho GTPase-activating protein 9 isoform X7 XP_047285292.1:p.Ser186= XP_047285292.1:p.Ser186Ala XP_047285292.1:p.Ser186Pro
rho GTPase-activating protein 9 isoform X8 XP_047285293.1:p.Ser186= XP_047285293.1:p.Ser186Ala XP_047285293.1:p.Ser186Pro
rho GTPase-activating protein 9 isoform X11 XP_047285296.1:p.Ser186= XP_047285296.1:p.Ser186Ala XP_047285296.1:p.Ser186Pro
rho GTPase-activating protein 9 isoform X9 XP_047285294.1:p.Ser418= XP_047285294.1:p.Ser418Ala XP_047285294.1:p.Ser418Pro
rho GTPase-activating protein 9 isoform X10 XP_047285295.1:p.Ser418= XP_047285295.1:p.Ser418Ala XP_047285295.1:p.Ser418Pro
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#.

172 SubSNP, 31 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss16239915 Feb 28, 2004 (120)
2 CSHL-HAPMAP ss19249426 Feb 28, 2004 (126)
3 APPLERA_GI ss48404630 Mar 10, 2006 (126)
4 ILLUMINA ss66604961 Nov 30, 2006 (127)
5 ILLUMINA ss67005229 Nov 30, 2006 (127)
6 ILLUMINA ss67324186 Nov 30, 2006 (127)
7 ILLUMINA ss71639433 May 17, 2007 (127)
8 ILLUMINA ss75435685 Dec 06, 2007 (129)
9 HGSV ss78658118 Dec 06, 2007 (129)
10 ILLUMINA ss79310364 Dec 15, 2007 (130)
11 KRIBB_YJKIM ss85098420 Dec 15, 2007 (130)
12 BCMHGSC_JDW ss89175072 Mar 24, 2008 (129)
13 ILLUMINA ss98311063 May 26, 2008 (130)
14 ILLUMINA ss123075487 Dec 01, 2009 (131)
15 ENSEMBL ss133187618 Dec 01, 2009 (131)
16 ENSEMBL ss139938903 Dec 01, 2009 (131)
17 ILLUMINA ss152990256 Dec 01, 2009 (131)
18 ILLUMINA ss159175692 Dec 01, 2009 (131)
19 SEATTLESEQ ss159726699 Dec 01, 2009 (131)
20 ILLUMINA ss159979926 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss168354417 Jul 04, 2010 (132)
22 ILLUMINA ss169865668 Jul 04, 2010 (132)
23 ILLUMINA ss171274041 Jul 04, 2010 (132)
24 BCM-HGSC-SUB ss208389043 Jul 04, 2010 (132)
25 1000GENOMES ss210818850 Jul 14, 2010 (132)
26 1000GENOMES ss235948211 Jul 15, 2010 (132)
27 1000GENOMES ss242505265 Jul 15, 2010 (132)
28 GMI ss286567411 Apr 25, 2013 (138)
29 PJP ss291258294 May 09, 2011 (134)
30 NHLBI-ESP ss342360636 May 09, 2011 (134)
31 ILLUMINA ss479525229 May 04, 2012 (137)
32 ILLUMINA ss479529024 May 04, 2012 (137)
33 ILLUMINA ss479985515 Sep 08, 2015 (146)
34 ILLUMINA ss484561638 May 04, 2012 (137)
35 1000GENOMES ss491045793 May 04, 2012 (137)
36 EXOME_CHIP ss491470091 May 04, 2012 (137)
37 CLINSEQ_SNP ss491667969 May 04, 2012 (137)
38 ILLUMINA ss536696693 Sep 08, 2015 (146)
39 NCBI-CURATED-RECORDS ss537712949 Jan 04, 2013 (137)
40 TISHKOFF ss563188438 Apr 25, 2013 (138)
41 SSMP ss658747946 Apr 25, 2013 (138)
42 ILLUMINA ss778758859 Sep 08, 2015 (146)
43 ILLUMINA ss780689818 Sep 08, 2015 (146)
44 ILLUMINA ss782727506 Sep 08, 2015 (146)
45 ILLUMINA ss783363520 Sep 08, 2015 (146)
46 ILLUMINA ss783694838 Sep 08, 2015 (146)
47 ILLUMINA ss825640882 Apr 01, 2015 (144)
48 ILLUMINA ss831979202 Sep 08, 2015 (146)
49 ILLUMINA ss832688215 Jul 13, 2019 (153)
50 ILLUMINA ss834218597 Sep 08, 2015 (146)
51 JMKIDD_LAB ss974484167 Aug 21, 2014 (142)
52 EVA-GONL ss989572661 Aug 21, 2014 (142)
53 JMKIDD_LAB ss1067535352 Aug 21, 2014 (142)
54 JMKIDD_LAB ss1078488086 Aug 21, 2014 (142)
55 1000GENOMES ss1345176882 Aug 21, 2014 (142)
56 DDI ss1426944465 Apr 01, 2015 (144)
57 EVA_GENOME_DK ss1576305539 Apr 01, 2015 (144)
58 EVA_FINRISK ss1584082846 Apr 01, 2015 (144)
59 EVA_DECODE ss1599246370 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1628671032 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1671665065 Apr 01, 2015 (144)
62 EVA_EXAC ss1690981321 Apr 01, 2015 (144)
63 EVA_EXAC ss1690981322 Apr 01, 2015 (144)
64 EVA_MGP ss1711333950 Apr 01, 2015 (144)
65 EVA_SVP ss1713330625 Apr 01, 2015 (144)
66 ILLUMINA ss1752074746 Sep 08, 2015 (146)
67 ILLUMINA ss1752074747 Sep 08, 2015 (146)
68 ILLUMINA ss1917875583 Feb 12, 2016 (147)
69 WEILL_CORNELL_DGM ss1932937990 Feb 12, 2016 (147)
70 ILLUMINA ss1946341222 Feb 12, 2016 (147)
71 ILLUMINA ss1959439847 Feb 12, 2016 (147)
72 JJLAB ss2027218650 Sep 14, 2016 (149)
73 ILLUMINA ss2094874940 Dec 20, 2016 (150)
74 ILLUMINA ss2095035955 Dec 20, 2016 (150)
75 USC_VALOUEV ss2155560191 Dec 20, 2016 (150)
76 HUMAN_LONGEVITY ss2190117854 Dec 20, 2016 (150)
77 SYSTEMSBIOZJU ss2628090814 Nov 08, 2017 (151)
78 ILLUMINA ss2632964303 Nov 08, 2017 (151)
79 GRF ss2699905209 Nov 08, 2017 (151)
80 GNOMAD ss2739929178 Nov 08, 2017 (151)
81 GNOMAD ss2748900643 Nov 08, 2017 (151)
82 GNOMAD ss2910977641 Nov 08, 2017 (151)
83 AFFY ss2984981804 Nov 08, 2017 (151)
84 SWEGEN ss3009756978 Nov 08, 2017 (151)
85 ILLUMINA ss3021436324 Nov 08, 2017 (151)
86 EVA_SAMSUNG_MC ss3023067902 Nov 08, 2017 (151)
87 BIOINF_KMB_FNS_UNIBA ss3027418080 Nov 08, 2017 (151)
88 CSHL ss3350082067 Nov 08, 2017 (151)
89 ILLUMINA ss3626888275 Oct 12, 2018 (152)
90 ILLUMINA ss3626888276 Oct 12, 2018 (152)
91 ILLUMINA ss3630973178 Oct 12, 2018 (152)
92 ILLUMINA ss3633021822 Oct 12, 2018 (152)
93 ILLUMINA ss3633722876 Oct 12, 2018 (152)
94 ILLUMINA ss3634507760 Oct 12, 2018 (152)
95 ILLUMINA ss3634507761 Oct 12, 2018 (152)
96 ILLUMINA ss3635413604 Oct 12, 2018 (152)
97 ILLUMINA ss3636192422 Oct 12, 2018 (152)
98 ILLUMINA ss3637164597 Oct 12, 2018 (152)
99 ILLUMINA ss3637966068 Oct 12, 2018 (152)
100 ILLUMINA ss3638996269 Oct 12, 2018 (152)
101 ILLUMINA ss3639500371 Oct 12, 2018 (152)
102 ILLUMINA ss3640215093 Oct 12, 2018 (152)
103 ILLUMINA ss3640215094 Oct 12, 2018 (152)
104 ILLUMINA ss3642959400 Oct 12, 2018 (152)
105 ILLUMINA ss3644594195 Oct 12, 2018 (152)
106 OMUKHERJEE_ADBS ss3646443794 Oct 12, 2018 (152)
107 URBANLAB ss3649845871 Oct 12, 2018 (152)
108 ILLUMINA ss3651815267 Oct 12, 2018 (152)
109 ILLUMINA ss3651815268 Oct 12, 2018 (152)
110 ILLUMINA ss3653751303 Oct 12, 2018 (152)
111 EGCUT_WGS ss3677024716 Jul 13, 2019 (153)
112 EVA_DECODE ss3693749773 Jul 13, 2019 (153)
113 ILLUMINA ss3725330032 Jul 13, 2019 (153)
114 ACPOP ss3739056444 Jul 13, 2019 (153)
115 ILLUMINA ss3744397614 Jul 13, 2019 (153)
116 ILLUMINA ss3744808430 Jul 13, 2019 (153)
117 ILLUMINA ss3744808431 Jul 13, 2019 (153)
118 EVA ss3750527390 Jul 13, 2019 (153)
119 PAGE_CC ss3771695322 Jul 13, 2019 (153)
120 ILLUMINA ss3772307867 Jul 13, 2019 (153)
121 ILLUMINA ss3772307868 Jul 13, 2019 (153)
122 PACBIO ss3787237664 Jul 13, 2019 (153)
123 PACBIO ss3792337104 Jul 13, 2019 (153)
124 PACBIO ss3797219874 Jul 13, 2019 (153)
125 KHV_HUMAN_GENOMES ss3815857384 Jul 13, 2019 (153)
126 EVA ss3824744609 Apr 27, 2020 (154)
127 EVA ss3825528734 Apr 27, 2020 (154)
128 EVA ss3825543935 Apr 27, 2020 (154)
129 EVA ss3825823926 Apr 27, 2020 (154)
130 EVA ss3833142490 Apr 27, 2020 (154)
131 EVA ss3840140719 Apr 27, 2020 (154)
132 EVA ss3845627373 Apr 27, 2020 (154)
133 HGDP ss3847451883 Apr 27, 2020 (154)
134 SGDP_PRJ ss3878357474 Apr 27, 2020 (154)
135 KRGDB ss3927007530 Apr 27, 2020 (154)
136 KOGIC ss3972025960 Apr 27, 2020 (154)
137 FSA-LAB ss3984031089 Apr 26, 2021 (155)
138 EVA ss3984667655 Apr 26, 2021 (155)
139 EVA ss3985593171 Apr 26, 2021 (155)
140 EVA ss3986060083 Apr 26, 2021 (155)
141 EVA ss3986574983 Apr 26, 2021 (155)
142 TOPMED ss4919722778 Apr 26, 2021 (155)
143 TOMMO_GENOMICS ss5206515734 Apr 26, 2021 (155)
144 EVA ss5236906911 Apr 26, 2021 (155)
145 EVA ss5237220768 Apr 26, 2021 (155)
146 EVA ss5237660365 Oct 16, 2022 (156)
147 1000G_HIGH_COVERAGE ss5290954057 Oct 16, 2022 (156)
148 TRAN_CS_UWATERLOO ss5314435918 Oct 16, 2022 (156)
149 EVA ss5315623572 Oct 16, 2022 (156)
150 EVA ss5405893929 Oct 16, 2022 (156)
151 HUGCELL_USP ss5485688104 Oct 16, 2022 (156)
152 1000G_HIGH_COVERAGE ss5588508921 Oct 16, 2022 (156)
153 EVA ss5623958180 Oct 16, 2022 (156)
154 EVA ss5624033802 Oct 16, 2022 (156)
155 SANFORD_IMAGENETICS ss5624302725 Oct 16, 2022 (156)
156 SANFORD_IMAGENETICS ss5653233506 Oct 16, 2022 (156)
157 TOMMO_GENOMICS ss5756368809 Oct 16, 2022 (156)
158 EVA ss5799873369 Oct 16, 2022 (156)
159 EVA ss5800065267 Oct 16, 2022 (156)
160 EVA ss5800178212 Oct 16, 2022 (156)
161 YY_MCH ss5813332898 Oct 16, 2022 (156)
162 EVA ss5838019984 Oct 16, 2022 (156)
163 EVA ss5847409732 Oct 16, 2022 (156)
164 EVA ss5847672431 Oct 16, 2022 (156)
165 EVA ss5848355445 Oct 16, 2022 (156)
166 EVA ss5850398023 Oct 16, 2022 (156)
167 EVA ss5904552723 Oct 16, 2022 (156)
168 EVA ss5936553700 Oct 16, 2022 (156)
169 EVA ss5944596156 Oct 16, 2022 (156)
170 EVA ss5979392867 Oct 16, 2022 (156)
171 EVA ss5980743248 Oct 16, 2022 (156)
172 EVA ss5981276473 Oct 16, 2022 (156)
173 1000Genomes NC_000012.11 - 57870155 Oct 12, 2018 (152)
174 1000Genomes_30x NC_000012.12 - 57476372 Oct 16, 2022 (156)
175 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 57870155 Oct 12, 2018 (152)
176 Genetic variation in the Estonian population NC_000012.11 - 57870155 Oct 12, 2018 (152)
177 ExAC

Submission ignored due to conflicting rows:
Row 1283869 (NC_000012.11:57870154:A:A 58888/119836, NC_000012.11:57870154:A:C 60948/119836)
Row 1283870 (NC_000012.11:57870154:A:A 119835/119836, NC_000012.11:57870154:A:G 1/119836)

- Oct 12, 2018 (152)
178 ExAC

Submission ignored due to conflicting rows:
Row 1283869 (NC_000012.11:57870154:A:A 58888/119836, NC_000012.11:57870154:A:C 60948/119836)
Row 1283870 (NC_000012.11:57870154:A:A 119835/119836, NC_000012.11:57870154:A:G 1/119836)

- Oct 12, 2018 (152)
179 FINRISK NC_000012.11 - 57870155 Apr 27, 2020 (154)
180 The Danish reference pan genome NC_000012.11 - 57870155 Apr 27, 2020 (154)
181 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 408548271 (NC_000012.12:57476371:A:C 65380/139978)
Row 408548272 (NC_000012.12:57476371:A:G 0/140022)

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

Submission ignored due to conflicting rows:
Row 408548271 (NC_000012.12:57476371:A:C 65380/139978)
Row 408548272 (NC_000012.12:57476371:A:G 0/140022)

- Apr 26, 2021 (155)
183 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 9163330 (NC_000012.11:57870154:A:A 123842/249864, NC_000012.11:57870154:A:C 126022/249864)
Row 9163331 (NC_000012.11:57870154:A:A 249862/249864, NC_000012.11:57870154:A:G 2/249864)

- Jul 13, 2019 (153)
184 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 9163330 (NC_000012.11:57870154:A:A 123842/249864, NC_000012.11:57870154:A:C 126022/249864)
Row 9163331 (NC_000012.11:57870154:A:A 249862/249864, NC_000012.11:57870154:A:G 2/249864)

- Jul 13, 2019 (153)
185 GO Exome Sequencing Project NC_000012.11 - 57870155 Oct 12, 2018 (152)
186 Genome of the Netherlands Release 5 NC_000012.11 - 57870155 Apr 27, 2020 (154)
187 HGDP-CEPH-db Supplement 1 NC_000012.10 - 56156422 Apr 27, 2020 (154)
188 HapMap NC_000012.12 - 57476372 Apr 27, 2020 (154)
189 KOREAN population from KRGDB NC_000012.11 - 57870155 Apr 27, 2020 (154)
190 Korean Genome Project NC_000012.12 - 57476372 Apr 27, 2020 (154)
191 Medical Genome Project healthy controls from Spanish population NC_000012.11 - 57870155 Apr 27, 2020 (154)
192 Northern Sweden NC_000012.11 - 57870155 Jul 13, 2019 (153)
193 The PAGE Study NC_000012.12 - 57476372 Jul 13, 2019 (153)
194 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000012.11 - 57870155 Apr 26, 2021 (155)
195 CNV burdens in cranial meningiomas NC_000012.11 - 57870155 Apr 26, 2021 (155)
196 Qatari NC_000012.11 - 57870155 Apr 27, 2020 (154)
197 SGDP_PRJ NC_000012.11 - 57870155 Apr 27, 2020 (154)
198 Siberian NC_000012.11 - 57870155 Apr 27, 2020 (154)
199 8.3KJPN NC_000012.11 - 57870155 Apr 26, 2021 (155)
200 14KJPN NC_000012.12 - 57476372 Oct 16, 2022 (156)
201 TopMed NC_000012.12 - 57476372 Apr 26, 2021 (155)
202 UK 10K study - Twins NC_000012.11 - 57870155 Oct 12, 2018 (152)
203 ALFA NC_000012.12 - 57476372 Apr 26, 2021 (155)
204 ClinVar RCV000001248.5 Oct 12, 2018 (152)
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)
rs12425852 Mar 10, 2006 (126)
rs60434946 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78658118, ss3638996269, ss3639500371 NC_000012.9:56156421:A:C NC_000012.12:57476371:A:C (self)
129775, ss89175072, ss168354417, ss208389043, ss210818850, ss286567411, ss291258294, ss479525229, ss491667969, ss825640882, ss1599246370, ss1713330625, ss2094874940, ss3642959400, ss3847451883 NC_000012.10:56156421:A:C NC_000012.12:57476371:A:C (self)
57931481, 32163861, 22762964, 79307, 2978022, 1202066, 14350745, 34184924, 449710, 12341309, 819098, 217148, 14979920, 30374454, 8076545, 64485041, 32163861, ss235948211, ss242505265, ss342360636, ss479529024, ss479985515, ss484561638, ss491045793, ss491470091, ss536696693, ss563188438, ss658747946, ss778758859, ss780689818, ss782727506, ss783363520, ss783694838, ss831979202, ss832688215, ss834218597, ss974484167, ss989572661, ss1067535352, ss1078488086, ss1345176882, ss1426944465, ss1576305539, ss1584082846, ss1628671032, ss1671665065, ss1690981321, ss1711333950, ss1752074746, ss1752074747, ss1917875583, ss1932937990, ss1946341222, ss1959439847, ss2027218650, ss2095035955, ss2155560191, ss2628090814, ss2632964303, ss2699905209, ss2739929178, ss2748900643, ss2910977641, ss2984981804, ss3009756978, ss3021436324, ss3023067902, ss3350082067, ss3626888275, ss3626888276, ss3630973178, ss3633021822, ss3633722876, ss3634507760, ss3634507761, ss3635413604, ss3636192422, ss3637164597, ss3637966068, ss3640215093, ss3640215094, ss3644594195, ss3646443794, ss3651815267, ss3651815268, ss3653751303, ss3677024716, ss3739056444, ss3744397614, ss3744808430, ss3744808431, ss3750527390, ss3772307867, ss3772307868, ss3787237664, ss3792337104, ss3797219874, ss3824744609, ss3825528734, ss3825543935, ss3825823926, ss3833142490, ss3840140719, ss3878357474, ss3927007530, ss3984031089, ss3984667655, ss3985593171, ss3986060083, ss3986574983, ss5206515734, ss5315623572, ss5405893929, ss5623958180, ss5624033802, ss5624302725, ss5653233506, ss5799873369, ss5800065267, ss5800178212, ss5838019984, ss5847409732, ss5847672431, ss5848355445, ss5936553700, ss5944596156, ss5979392867, ss5980743248, ss5981276473 NC_000012.11:57870154:A:C NC_000012.12:57476371:A:C (self)
RCV000001248.5, 76034856, 823712, 28403961, 916791, 90205913, 135268435, 11691083301, ss537712949, ss2190117854, ss3027418080, ss3649845871, ss3693749773, ss3725330032, ss3771695322, ss3815857384, ss3845627373, ss3972025960, ss4919722778, ss5236906911, ss5237220768, ss5237660365, ss5290954057, ss5314435918, ss5485688104, ss5588508921, ss5756368809, ss5813332898, ss5850398023, ss5904552723 NC_000012.12:57476371:A:C NC_000012.12:57476371:A:C (self)
ss19249426 NT_029419.10:20013460:A:C NC_000012.12:57476371:A:C (self)
ss16239915, ss48404630, ss66604961, ss67005229, ss67324186, ss71639433, ss75435685, ss79310364, ss85098420, ss98311063, ss123075487, ss133187618, ss139938903, ss152990256, ss159175692, ss159726699, ss159979926, ss169865668, ss171274041 NT_029419.12:20013460:A:C NC_000012.12:57476371:A:C (self)
ss1690981322, ss2739929178 NC_000012.11:57870154:A:G NC_000012.12:57476371:A:G (self)
11691083301 NC_000012.12:57476371:A:G NC_000012.12:57476371: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.

1 citation for rs11544238
PMID Title Author Year Journal
19911011 Mutation of ARHGAP9 in patients with coronary spastic angina. Takefuji M et al. 2010 Journal of human 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.post761+d5e8e07