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rs104894708

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894708(C;T)
Make rs104894708(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position40395144
GenePRX
is asnp
is mentioned by
dbSNPrs104894708
ebirs104894708
HLIrs104894708
Exacrs104894708
Varsomers104894708
Maprs104894708
PheGenIrs104894708
hapmaprs104894708
1000 genomesrs104894708
hgdprs104894708
ensemblrs104894708
gopubmedrs104894708
geneviewrs104894708
scholarrs104894708
googlers104894708
pharmgkbrs104894708
gwascentralrs104894708
openSNPrs104894708
23andMers104894708
23andMe allrs104894708
SNP Nexus

SNPshotrs104894708
SNPdbers104894708
MSV3drs104894708
GWAS Ctlgrs104894708
Max Magnitude0
OMIM605725
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894708(T;T)
Alt rs104894708(T;T)
Reference rs104894708(C;C)
Significance Pathogenic
Disease Dejerine-Sottas disease Charcot-Marie-Tooth disease
Variation info
Gene PRX
CLNDBN Dejerine-Sottas disease Charcot-Marie-Tooth disease, demyelinating, type 4f
Reversed 1
HGVS NC_000019.9:g.40901051G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005061.6, RCV000032006.1,