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rs11544238

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs11544238(G;G)
Make rs11544238(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position57476372
GeneARHGAP9
is asnp
is mentioned by
dbSNPrs11544238
ebirs11544238
HLIrs11544238
Exacrs11544238
Varsomers11544238
Maprs11544238
PheGenIrs11544238
hapmaprs11544238
1000 genomesrs11544238
hgdprs11544238
ensemblrs11544238
gopubmedrs11544238
geneviewrs11544238
scholarrs11544238
googlers11544238
pharmgkbrs11544238
gwascentralrs11544238
openSNPrs11544238
23andMers11544238
23andMe allrs11544238
SNP Nexus

SNPshotrs11544238
SNPdbers11544238
MSV3drs11544238
GWAS Ctlgrs11544238
GMAF0.4151
Max Magnitude0
? (G;G) (G;T) (T;T) 28
OMIM610576
Desc
Variant0001
Relatedalso

[PMID 19911011] Mutation of ARHGAP9 in patients with coronary spastic angina.


GET Evidence
ARHGAP9-S370A
aa_change Ser370Ala
aa_change_short S370A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.487358
summary



ClinVar
Risk rs11544238(C,G;C,G)
Alt rs11544238(C,G;C,G)
Reference rs11544238(T;T)
Significance Other
Disease Coronary artery spasm 3
Variation info
Gene ARHGAP9
CLNDBN Coronary artery spasm 3, susceptibility to
Reversed 1
HGVS NC_000012.11:g.57870155A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001248.5,