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rs80338763

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs80338763(-;-)
Make rs80338763(-;G)
Make rs80338763(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position15239508
GenePMP22
is asnp
is mentioned by
dbSNPrs80338763
ClinGenrs80338763
ebirs80338763
HLIrs80338763
Exacrs80338763
Varsomers80338763
Maprs80338763
PheGenIrs80338763
hapmaprs80338763
1000 genomesrs80338763
hgdprs80338763
ensemblrs80338763
gopubmedrs80338763
geneviewrs80338763
scholarrs80338763
googlers80338763
pharmgkbrs80338763
gwascentralrs80338763
openSNPrs80338763
23andMers80338763
23andMe allrs80338763
SNP Nexus

SNPshotrs80338763
SNPdbers80338763
MSV3drs80338763
GWAS Ctlgrs80338763
Max Magnitude0
ClinVar
Risk rs80338763(G;G)
Alt rs80338763(G;G)
Reference Rs80338763(;)
Significance Pathogenic
Disease Hereditary liability to pressure palsies Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease
Variation info
Gene PMP22
CLNDBN Hereditary liability to pressure palsies Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease, type IA
Reversed 1
HGVS NC_000017.10:g.15142826dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000008952.4, RCV000033899.2, RCV000201059.1,