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rs398124160

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124160(C;T)
Make rs398124160(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position54495258
GeneFGD1
is asnp
is mentioned by
dbSNPrs398124160
ebirs398124160
HLIrs398124160
Exacrs398124160
Varsomers398124160
Maprs398124160
PheGenIrs398124160
hapmaprs398124160
1000 genomesrs398124160
hgdprs398124160
ensemblrs398124160
gopubmedrs398124160
geneviewrs398124160
scholarrs398124160
googlers398124160
pharmgkbrs398124160
gwascentralrs398124160
openSNPrs398124160
23andMers398124160
23andMe allrs398124160
SNP Nexus

SNPshotrs398124160
SNPdbers398124160
MSV3drs398124160
GWAS Ctlgrs398124160
Max Magnitude0
ClinVar
Risk rs398124160(T;T)
Alt rs398124160(T;T)
Reference rs398124160(C;C)
Significance Pathogenic
Disease not provided Aarskog syndrome
Variation info
Gene FGD1
CLNDBN not provided Aarskog syndrome
Reversed 1
HGVS NC_000023.10:g.54521691G>A
CLNSRC HGMD
CLNACC RCV000081090.3, RCV000173343.1,