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rs1057518963

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518963(C;C)
Make rs1057518963(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position68210239
GeneOPHN1
is asnp
is mentioned by
dbSNPrs1057518963
dbSNP (old)rs1057518963
ClinGenrs1057518963
ebirs1057518963
HLIrs1057518963
Exacrs1057518963
Gnomadrs1057518963
Varsomers1057518963
LitVarrs1057518963
Maprs1057518963
PheGenIrs1057518963
Biobankrs1057518963
1000 genomesrs1057518963
hgdprs1057518963
ensemblrs1057518963
gopubmedrs1057518963
geneviewrs1057518963
scholarrs1057518963
googlers1057518963
pharmgkbrs1057518963
gwascentralrs1057518963
openSNPrs1057518963
23andMers1057518963
23andMe allrs1057518963
SNPshotrs1057518963
SNPdbers1057518963
MSV3drs1057518963
GWAS Ctlgrs1057518963
Max Magnitude0
ClinVar
Risk rs1057518963(C;C)
Alt rs1057518963(C;C)
Reference Rs1057518963(T;T)
Significance Probable-Pathogenic
Disease Cerebellar hypoplasia Delayed gross motor development Hypoplasia of the corpus callosum Nystagmus Oligohydramnios Seizures
Variation info
Gene OPHN1
CLNDBN Cerebellar hypoplasia Delayed gross motor development Hypoplasia of the corpus callosum Nystagmus Oligohydramnios Seizures
Reversed 1
HGVS NC_000023.10:g.67430081A>G
CLNSRC
CLNACC RCV000415241.1,