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rs104894618

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894618(C;G)
Make rs104894618(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position15239554
GenePMP22
is asnp
is mentioned by
dbSNPrs104894618
ebirs104894618
HLIrs104894618
Exacrs104894618
Varsomers104894618
Maprs104894618
PheGenIrs104894618
hapmaprs104894618
1000 genomesrs104894618
hgdprs104894618
ensemblrs104894618
gopubmedrs104894618
geneviewrs104894618
scholarrs104894618
googlers104894618
pharmgkbrs104894618
gwascentralrs104894618
openSNPrs104894618
23andMers104894618
23andMe allrs104894618
SNP Nexus

SNPshotrs104894618
SNPdbers104894618
MSV3drs104894618
GWAS Ctlgrs104894618
Max Magnitude0
OMIM601097
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894618(G;G)
Alt rs104894618(G;G)
Reference rs104894618(C;C)
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.15142871G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008941.3,