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rs398124161

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs398124161(-;TT)
Make rs398124161(TT;TT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position54449694
GeneFGD1
is asnp
is mentioned by
dbSNPrs398124161
dbSNP (classic)rs398124161
ClinGenrs398124161
ebirs398124161
HLIrs398124161
Exacrs398124161
Gnomadrs398124161
Varsomers398124161
LitVarrs398124161
Maprs398124161
PheGenIrs398124161
Biobankrs398124161
1000 genomesrs398124161
hgdprs398124161
ensemblrs398124161
geneviewrs398124161
scholarrs398124161
googlers398124161
pharmgkbrs398124161
gwascentralrs398124161
openSNPrs398124161
23andMers398124161
SNPshotrs398124161
SNPdbers398124161
MSV3drs398124161
GWAS Ctlgrs398124161
Max Magnitude0
ClinVar
Risk rs398124161(TT;TT)
Alt rs398124161(TT;TT)
Reference Rs398124161(-;-)
Significance Pathogenic
Disease not provided Aarskog syndrome
Variation info
Gene FGD1
CLNDBN not provided Aarskog syndrome
Reversed 1
HGVS NC_000023.10:g.54476127_54476128insAA
CLNSRC ClinVar
CLNACC RCV000081092.3, RCV000174747.1,