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rs104894707

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894707(A;A)
Make rs104894707(A;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position40396207
GenePRX
is asnp
is mentioned by
dbSNPrs104894707
dbSNP (classic)rs104894707
ClinGenrs104894707
ebirs104894707
HLIrs104894707
Exacrs104894707
Gnomadrs104894707
Varsomers104894707
LitVarrs104894707
Maprs104894707
PheGenIrs104894707
Biobankrs104894707
1000 genomesrs104894707
hgdprs104894707
ensemblrs104894707
geneviewrs104894707
scholarrs104894707
googlers104894707
pharmgkbrs104894707
gwascentralrs104894707
openSNPrs104894707
23andMers104894707
SNPshotrs104894707
SNPdbers104894707
MSV3drs104894707
GWAS Ctlgrs104894707
Max Magnitude0
OMIM605725
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894707(A;A)
Alt rs104894707(A;A)
Reference Rs104894707(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene PRX
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 4f Charcot-Marie-Tooth disease, type IV
Reversed 1
HGVS NC_000019.9:g.40902114A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032004.3, RCV000474032.1,