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rs137853266

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853266(G;T)
Make rs137853266(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position54467796
GeneFGD1
is asnp
is mentioned by
dbSNPrs137853266
ebirs137853266
HLIrs137853266
Exacrs137853266
Varsomers137853266
Maprs137853266
PheGenIrs137853266
hapmaprs137853266
1000 genomesrs137853266
hgdprs137853266
ensemblrs137853266
gopubmedrs137853266
geneviewrs137853266
scholarrs137853266
googlers137853266
pharmgkbrs137853266
gwascentralrs137853266
openSNPrs137853266
23andMers137853266
23andMe allrs137853266
SNP Nexus

SNPshotrs137853266
SNPdbers137853266
MSV3drs137853266
GWAS Ctlgrs137853266
Max Magnitude0
OMIM300546
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137853266(T;T)
Alt rs137853266(T;T)
Reference rs137853266(G;G)
Significance Pathogenic
Disease Aarskog syndrome
Variation info
Gene FGD1
CLNDBN Aarskog syndrome
Reversed 1
HGVS NC_000023.10:g.54494229C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011579.2,