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rs387906718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906718(C;T)
Make rs387906718(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position54455497
GeneFGD1
is asnp
is mentioned by
dbSNPrs387906718
ebirs387906718
HLIrs387906718
Exacrs387906718
Varsomers387906718
Maprs387906718
PheGenIrs387906718
hapmaprs387906718
1000 genomesrs387906718
hgdprs387906718
ensemblrs387906718
gopubmedrs387906718
geneviewrs387906718
scholarrs387906718
googlers387906718
pharmgkbrs387906718
gwascentralrs387906718
openSNPrs387906718
23andMers387906718
23andMe allrs387906718
SNP Nexus

SNPshotrs387906718
SNPdbers387906718
MSV3drs387906718
GWAS Ctlgrs387906718
Max Magnitude0
ClinVar
Risk rs387906718(T;T)
Alt rs387906718(T;T)
Reference rs387906718(C;C)
Significance Pathogenic
Disease Aarskog syndrome
Variation info
Gene FGD1
CLNDBN Aarskog syndrome
Reversed 1
HGVS NC_000023.10:g.54481930G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022866.6,