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

rs104894622

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894622(A;A)
Make rs104894622(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position15260692
GenePMP22
is asnp
is mentioned by
dbSNPrs104894622
ebirs104894622
HLIrs104894622
Exacrs104894622
Varsomers104894622
Maprs104894622
PheGenIrs104894622
hapmaprs104894622
1000 genomesrs104894622
hgdprs104894622
ensemblrs104894622
gopubmedrs104894622
geneviewrs104894622
scholarrs104894622
googlers104894622
pharmgkbrs104894622
gwascentralrs104894622
openSNPrs104894622
23andMers104894622
23andMe allrs104894622
SNP Nexus

SNPshotrs104894622
SNPdbers104894622
MSV3drs104894622
GWAS Ctlgrs104894622
Max Magnitude0
OMIM601097
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894622(A;A)
Alt rs104894622(A;A)
Reference rs104894622(C;C)
Significance Pathogenic
Disease Dejerine-Sottas syndrome Charcot-Marie-Tooth disease
Variation info
Gene PMP22
CLNDBN Dejerine-Sottas syndrome, autosomal dominant Charcot-Marie-Tooth disease, type I
Reversed 1
HGVS NC_000017.10:g.15164009G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008949.4, RCV000168060.1,