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rs104894714

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894714(C;T)
Make rs104894714(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position40395495
GenePRX
is asnp
is mentioned by
dbSNPrs104894714
ebirs104894714
HLIrs104894714
Exacrs104894714
Varsomers104894714
Maprs104894714
PheGenIrs104894714
hapmaprs104894714
1000 genomesrs104894714
hgdprs104894714
ensemblrs104894714
gopubmedrs104894714
geneviewrs104894714
scholarrs104894714
googlers104894714
pharmgkbrs104894714
gwascentralrs104894714
openSNPrs104894714
23andMers104894714
23andMe allrs104894714
SNP Nexus

SNPshotrs104894714
SNPdbers104894714
MSV3drs104894714
GWAS Ctlgrs104894714
Max Magnitude0
OMIM605725
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894714(T;T)
Alt rs104894714(T;T)
Reference Rs104894714(C;C)
Significance Pathogenic
Disease Autosomal recessive Dejerine-Sottas syndrome Charcot-Marie-Tooth disease not provided
Variation info
Gene PRX
CLNDBN Autosomal recessive Dejerine-Sottas syndrome Charcot-Marie-Tooth disease, demyelinating, type 4f not provided
Reversed 1
HGVS NC_000019.9:g.40901402G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005053.4, RCV000201141.1, RCV000236836.1,