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rs869312676

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312676(A;A)
Make rs869312676(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position68063977
GeneOPHN1
is asnp
is mentioned by
dbSNPrs869312676
ebirs869312676
HLIrs869312676
Exacrs869312676
Varsomers869312676
Maprs869312676
PheGenIrs869312676
hapmaprs869312676
1000 genomesrs869312676
hgdprs869312676
ensemblrs869312676
gopubmedrs869312676
geneviewrs869312676
scholarrs869312676
googlers869312676
pharmgkbrs869312676
gwascentralrs869312676
openSNPrs869312676
23andMers869312676
23andMe allrs869312676
SNP Nexus

SNPshotrs869312676
SNPdbers869312676
MSV3drs869312676
GWAS Ctlgrs869312676
Max Magnitude0
ClinVar
Risk rs869312676(A;A)
Alt rs869312676(A;A)
Reference rs869312676(G;G)
Significance Probable-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.67283819C>T
CLNSRC
CLNACC RCV000209895.1,