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

rs104894626

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894626(C;C)
Make rs104894626(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position15259190
GenePMP22
is asnp
is mentioned by
dbSNPrs104894626
ebirs104894626
HLIrs104894626
Exacrs104894626
Varsomers104894626
Maprs104894626
PheGenIrs104894626
hapmaprs104894626
1000 genomesrs104894626
hgdprs104894626
ensemblrs104894626
gopubmedrs104894626
geneviewrs104894626
scholarrs104894626
googlers104894626
pharmgkbrs104894626
gwascentralrs104894626
openSNPrs104894626
23andMers104894626
23andMe allrs104894626
SNP Nexus

SNPshotrs104894626
SNPdbers104894626
MSV3drs104894626
GWAS Ctlgrs104894626
Max Magnitude0
OMIM601097
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104894626(C;C)
Alt rs104894626(C;C)
Reference rs104894626(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease and deafness
Variation info
Gene PMP22
CLNDBN Charcot-Marie-Tooth disease and deafness
Reversed 1
HGVS NC_000017.10:g.15162507A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023072.3,