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rs104894715

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894715(C;T)
Make rs104894715(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position40397250
GenePRX
is asnp
is mentioned by
dbSNPrs104894715
ebirs104894715
HLIrs104894715
Exacrs104894715
Varsomers104894715
Maprs104894715
PheGenIrs104894715
hapmaprs104894715
1000 genomesrs104894715
hgdprs104894715
ensemblrs104894715
gopubmedrs104894715
geneviewrs104894715
scholarrs104894715
googlers104894715
pharmgkbrs104894715
gwascentralrs104894715
openSNPrs104894715
23andMers104894715
23andMe allrs104894715
SNP Nexus

SNPshotrs104894715
SNPdbers104894715
MSV3drs104894715
GWAS Ctlgrs104894715
GMAF0.0004591
Max Magnitude0
OMIM605725
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894715(G,T;G,T)
Alt rs104894715(G,T;G,T)
Reference rs104894715(C;C)
Significance Pathogenic
Disease Autosomal recessive Dejerine-Sottas syndrome
Variation info
Gene PRX
CLNDBN Autosomal recessive Dejerine-Sottas syndrome
Reversed 1
HGVS NC_000019.9:g.40903157G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005055.3,