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rs104894624

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894624(G;T)
Make rs104894624(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position15230952
GenePMP22
is asnp
is mentioned by
dbSNPrs104894624
ebirs104894624
HLIrs104894624
Exacrs104894624
Varsomers104894624
Maprs104894624
PheGenIrs104894624
hapmaprs104894624
1000 genomesrs104894624
hgdprs104894624
ensemblrs104894624
gopubmedrs104894624
geneviewrs104894624
scholarrs104894624
googlers104894624
pharmgkbrs104894624
gwascentralrs104894624
openSNPrs104894624
23andMers104894624
23andMe allrs104894624
SNP Nexus

SNPshotrs104894624
SNPdbers104894624
MSV3drs104894624
GWAS Ctlgrs104894624
Max Magnitude0
OMIM601097
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104894624(T;T)
Alt rs104894624(T;T)
Reference rs104894624(G;G)
Significance Pathogenic
Disease Dejerine-Sottas syndrome
Variation info
Gene PMP22
CLNDBN Dejerine-Sottas syndrome, autosomal dominant
Reversed 1
HGVS NC_000017.10:g.15134269C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008954.5,