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rs104894706

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894706(C;T)
Make rs104894706(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position40397766
GenePRX
is asnp
is mentioned by
dbSNPrs104894706
ebirs104894706
HLIrs104894706
Exacrs104894706
Varsomers104894706
Maprs104894706
PheGenIrs104894706
hapmaprs104894706
1000 genomesrs104894706
hgdprs104894706
ensemblrs104894706
gopubmedrs104894706
geneviewrs104894706
scholarrs104894706
googlers104894706
pharmgkbrs104894706
gwascentralrs104894706
openSNPrs104894706
23andMers104894706
23andMe allrs104894706
SNP Nexus

SNPshotrs104894706
SNPdbers104894706
MSV3drs104894706
GWAS Ctlgrs104894706
Max Magnitude0
OMIM605725
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894706(A,T;A,T)
Alt rs104894706(A,T;A,T)
Reference rs104894706(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Dejerine-Sottas disease
Variation info
Gene PRX
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 4f Dejerine-Sottas disease
Reversed 1
HGVS NC_000019.9:g.40903673G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005057.2, RCV000005058.2,