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rs1800053

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1800053(A;A)
Make rs1800053(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position67711453
GeneAR
is asnp
is mentioned by
dbSNPrs1800053
ebirs1800053
HLIrs1800053
Exacrs1800053
Varsomers1800053
Maprs1800053
PheGenIrs1800053
hapmaprs1800053
1000 genomesrs1800053
hgdprs1800053
ensemblrs1800053
gopubmedrs1800053
geneviewrs1800053
scholarrs1800053
googlers1800053
pharmgkbrs1800053
gwascentralrs1800053
openSNPrs1800053
23andMers1800053
23andMe allrs1800053
SNP Nexus

SNPshotrs1800053
SNPdbers1800053
MSV3drs1800053
GWAS Ctlgrs1800053
Max Magnitude0
OMIM313700
Desc
Variant0060
Relatedalso
ClinVar
Risk rs1800053(A;A)
Alt rs1800053(A;A)
Reference rs1800053(C;C)
Significance Pathogenic
Disease Reifenstein syndrome
Variation info
Gene AR
CLNDBN Reifenstein syndrome
Reversed 0
HGVS NC_000023.10:g.66931295C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010536.2,