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rs773876739

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 9 Pontocerebellar hypoplasia type 2D
(C;T) 3 Carrier of a Pontocerebellar hypoplasia type 2D mutation
(T;T) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position25123971
GeneSEPSECS
is asnp
is mentioned by
dbSNPrs773876739
ebirs773876739
HLIrs773876739
Exacrs773876739
Varsomers773876739
Maprs773876739
PheGenIrs773876739
hapmaprs773876739
1000 genomesrs773876739
hgdprs773876739
ensemblrs773876739
gopubmedrs773876739
geneviewrs773876739
scholarrs773876739
googlers773876739
pharmgkbrs773876739
gwascentralrs773876739
openSNPrs773876739
23andMers773876739
23andMe allrs773876739
SNP Nexus

SNPshotrs773876739
SNPdbers773876739
MSV3drs773876739
GWAS Ctlgrs773876739
Max Magnitude9

SEPSECS gene mutation, known as c.1466A>T, p.Asp489Val or D489V; considered pathogenic in ClinVar for Pontocerebellar hypoplasia type 2D

ClinVar
Risk rs773876739(A,C;A,C)
Alt rs773876739(A,C;A,C)
Reference rs773876739(T;T)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 2D
Variation info
Gene SEPSECS
CLNDBN Pontocerebellar hypoplasia type 2D
Reversed 0
HGVS NC_000004.11:g.25125593T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000170363.3,