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rs104894627

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894627(A;T)
Make rs104894627(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position15259162
GenePMP22
is asnp
is mentioned by
dbSNPrs104894627
ebirs104894627
HLIrs104894627
Exacrs104894627
Varsomers104894627
Maprs104894627
PheGenIrs104894627
hapmaprs104894627
1000 genomesrs104894627
hgdprs104894627
ensemblrs104894627
gopubmedrs104894627
geneviewrs104894627
scholarrs104894627
googlers104894627
pharmgkbrs104894627
gwascentralrs104894627
openSNPrs104894627
23andMers104894627
23andMe allrs104894627
SNP Nexus

SNPshotrs104894627
SNPdbers104894627
MSV3drs104894627
GWAS Ctlgrs104894627
Max Magnitude0
OMIM601097
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104894627(T;T)
Alt rs104894627(T;T)
Reference rs104894627(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene PMP22
CLNDBN Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths
Reversed 1
HGVS NC_000017.10:g.15162479T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008955.4,