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rs104894621

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894621(C;T)
Make rs104894621(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position15239575
GenePMP22
is asnp
is mentioned by
dbSNPrs104894621
ebirs104894621
HLIrs104894621
Exacrs104894621
Varsomers104894621
Maprs104894621
PheGenIrs104894621
hapmaprs104894621
1000 genomesrs104894621
hgdprs104894621
ensemblrs104894621
gopubmedrs104894621
geneviewrs104894621
scholarrs104894621
googlers104894621
pharmgkbrs104894621
gwascentralrs104894621
openSNPrs104894621
23andMers104894621
23andMe allrs104894621
SNP Nexus

SNPshotrs104894621
SNPdbers104894621
MSV3drs104894621
GWAS Ctlgrs104894621
Max Magnitude0
OMIM601097
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894621(T;T)
Alt rs104894621(T;T)
Reference rs104894621(C;C)
Significance Pathogenic
Disease Dejerine-Sottas syndrome Dejerine-Sottas disease
Variation info
Gene PMP22
CLNDBN Dejerine-Sottas syndrome, autosomal dominant Dejerine-Sottas disease
Reversed 1
HGVS NC_000017.10:g.15142892G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008948.5, RCV000178073.1,