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rs137853265

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853265(A;A)
Make rs137853265(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position54467901
GeneFGD1
is asnp
is mentioned by
dbSNPrs137853265
dbSNP (classic)rs137853265
ClinGenrs137853265
ebirs137853265
HLIrs137853265
Exacrs137853265
Gnomadrs137853265
Varsomers137853265
LitVarrs137853265
Maprs137853265
PheGenIrs137853265
Biobankrs137853265
1000 genomesrs137853265
hgdprs137853265
ensemblrs137853265
geneviewrs137853265
scholarrs137853265
googlers137853265
pharmgkbrs137853265
gwascentralrs137853265
openSNPrs137853265
23andMers137853265
SNPshotrs137853265
SNPdbers137853265
MSV3drs137853265
GWAS Ctlgrs137853265
Max Magnitude0
OMIM300546
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137853265(A;A)
Alt rs137853265(A;A)
Reference Rs137853265(G;G)
Significance Pathogenic
Disease Aarskog syndrome
Variation info
Gene FGD1
CLNDBN Aarskog syndrome
Reversed 1
HGVS NC_000023.10:g.54494334C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011577.8,