Have questions? Visit https://www.reddit.com/r/SNPedia

rs137854493

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854493(C;T)
Make rs137854493(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position68299067
GeneOPHN1
is asnp
is mentioned by
dbSNPrs137854493
ebirs137854493
HLIrs137854493
Exacrs137854493
Varsomers137854493
Maprs137854493
PheGenIrs137854493
hapmaprs137854493
1000 genomesrs137854493
hgdprs137854493
ensemblrs137854493
gopubmedrs137854493
geneviewrs137854493
scholarrs137854493
googlers137854493
pharmgkbrs137854493
gwascentralrs137854493
openSNPrs137854493
23andMers137854493
23andMe allrs137854493
SNP Nexus

SNPshotrs137854493
SNPdbers137854493
MSV3drs137854493
GWAS Ctlgrs137854493
Max Magnitude0
OMIM300127
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137854493(T;T)
Alt rs137854493(T;T)
Reference rs137854493(C;C)
Significance Pathogenic
Disease Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
Variation info
Gene OPHN1
CLNDBN Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
Reversed 1
HGVS NC_000023.10:g.67518909G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012335.24,