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rs104894623

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894623(C;C)
Make rs104894623(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position15239591
GenePMP22
is asnp
is mentioned by
dbSNPrs104894623
ebirs104894623
HLIrs104894623
Exacrs104894623
Varsomers104894623
Maprs104894623
PheGenIrs104894623
hapmaprs104894623
1000 genomesrs104894623
hgdprs104894623
ensemblrs104894623
gopubmedrs104894623
geneviewrs104894623
scholarrs104894623
googlers104894623
pharmgkbrs104894623
gwascentralrs104894623
openSNPrs104894623
23andMers104894623
23andMe allrs104894623
SNP Nexus

SNPshotrs104894623
SNPdbers104894623
MSV3drs104894623
GWAS Ctlgrs104894623
Max Magnitude0
OMIM601097
Desc
Variant0010
Relatedalso
OMIM601097
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104894623(A,C;A,C)
Alt rs104894623(A,C;A,C)
Reference rs104894623(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease and deafness Hereditary liability to pressure palsies
Variation info
Gene PMP22
CLNDBN Charcot-Marie-Tooth disease and deafness Hereditary liability to pressure palsies
Reversed 1
HGVS NC_000017.10:g.15142908C>G; NC_000017.10:g.15142908C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008951.3, RCV000008956.5,