Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894620

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894620(A;A)
Make rs104894620(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position15239584
GenePMP22
is asnp
is mentioned by
dbSNPrs104894620
ebirs104894620
HLIrs104894620
Exacrs104894620
Varsomers104894620
Maprs104894620
PheGenIrs104894620
hapmaprs104894620
1000 genomesrs104894620
hgdprs104894620
ensemblrs104894620
gopubmedrs104894620
geneviewrs104894620
scholarrs104894620
googlers104894620
pharmgkbrs104894620
gwascentralrs104894620
openSNPrs104894620
23andMers104894620
23andMe allrs104894620
SNP Nexus

SNPshotrs104894620
SNPdbers104894620
MSV3drs104894620
GWAS Ctlgrs104894620
Max Magnitude0
OMIM601097
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894620(A;A)
Alt rs104894620(A;A)
Reference rs104894620(T;T)
Significance Pathogenic
Disease Dejerine-Sottas syndrome
Variation info
Gene PMP22
CLNDBN Dejerine-Sottas syndrome, autosomal dominant
Reversed 1
HGVS NC_000017.10:g.15142901A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008947.4,