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rs267606817

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606817(A;A)
Make rs267606817(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154364263
GeneFLNA
is asnp
is mentioned by
dbSNPrs267606817
ebirs267606817
HLIrs267606817
Exacrs267606817
Varsomers267606817
Maprs267606817
PheGenIrs267606817
hapmaprs267606817
1000 genomesrs267606817
hgdprs267606817
ensemblrs267606817
gopubmedrs267606817
geneviewrs267606817
scholarrs267606817
googlers267606817
pharmgkbrs267606817
gwascentralrs267606817
openSNPrs267606817
23andMers267606817
23andMe allrs267606817
SNP Nexus

SNPshotrs267606817
SNPdbers267606817
MSV3drs267606817
GWAS Ctlgrs267606817
Max Magnitude0
ClinVar
Risk rs267606817(A;A)
Alt rs267606817(A;A)
Reference rs267606817(T;T)
Significance Pathogenic
Disease Cardiac valvular dysplasia
Variation info
Gene FLNA
CLNDBN Cardiac valvular dysplasia, X-linked
Reversed 1
HGVS NC_000023.10:g.153592631A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012545.14,