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rs104894617

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894617(C;C)
Make rs104894617(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position15260681
GenePMP22
is asnp
is mentioned by
dbSNPrs104894617
ebirs104894617
HLIrs104894617
Exacrs104894617
Varsomers104894617
Maprs104894617
PheGenIrs104894617
hapmaprs104894617
1000 genomesrs104894617
hgdprs104894617
ensemblrs104894617
gopubmedrs104894617
geneviewrs104894617
scholarrs104894617
googlers104894617
pharmgkbrs104894617
gwascentralrs104894617
openSNPrs104894617
23andMers104894617
23andMe allrs104894617
SNP Nexus

SNPshotrs104894617
SNPdbers104894617
MSV3drs104894617
GWAS Ctlgrs104894617
Max Magnitude0
OMIM601097
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894617(C;C)
Alt rs104894617(C;C)
Reference rs104894617(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene PMP22
CLNDBN Charcot-Marie-Tooth disease, type IA
Reversed 1
HGVS NC_000017.10:g.15163998A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008940.3,