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

rs104894625

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894625(C;T)
Make rs104894625(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position15260663
GenePMP22
is asnp
is mentioned by
dbSNPrs104894625
ebirs104894625
HLIrs104894625
Exacrs104894625
Varsomers104894625
Maprs104894625
PheGenIrs104894625
hapmaprs104894625
1000 genomesrs104894625
hgdprs104894625
ensemblrs104894625
gopubmedrs104894625
geneviewrs104894625
scholarrs104894625
googlers104894625
pharmgkbrs104894625
gwascentralrs104894625
openSNPrs104894625
23andMers104894625
23andMe allrs104894625
SNP Nexus

SNPshotrs104894625
SNPdbers104894625
MSV3drs104894625
GWAS Ctlgrs104894625
Max Magnitude0
OMIM601097
Desc
Variant0019
Relatedalso
ClinVar
Risk rs104894625(T;T)
Alt rs104894625(T;T)
Reference rs104894625(C;C)
Significance Pathogenic
Disease Hereditary liability to pressure palsies Charcot-Marie-Tooth disease
Variation info
Gene PMP22
CLNDBN Hereditary liability to pressure palsies Charcot-Marie-Tooth disease, type IA
Reversed 1
HGVS NC_000017.10:g.15163980G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008958.3, RCV000008959.3,