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

rs587784234

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784234(C;T)
Make rs587784234(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position68213963
GeneOPHN1
is asnp
is mentioned by
dbSNPrs587784234
ebirs587784234
HLIrs587784234
Exacrs587784234
Varsomers587784234
Maprs587784234
PheGenIrs587784234
hapmaprs587784234
1000 genomesrs587784234
hgdprs587784234
ensemblrs587784234
gopubmedrs587784234
geneviewrs587784234
scholarrs587784234
googlers587784234
pharmgkbrs587784234
gwascentralrs587784234
openSNPrs587784234
23andMers587784234
23andMe allrs587784234
SNP Nexus

SNPshotrs587784234
SNPdbers587784234
MSV3drs587784234
GWAS Ctlgrs587784234
Max Magnitude0
ClinVar
Risk rs587784234(T;T)
Alt rs587784234(T;T)
Reference rs587784234(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.67433805G>A
CLNSRC
CLNACC RCV000146993.1,