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rs786205111

From SNPedia

Orientationminus
Geno Mag Summary
(CCATCTACACGG;CCATCTACACGG) 0 common in clinvar
Make rs786205111(-;-)
Make rs786205111(-;CCATCTACACGG)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position15231045
GenePMP22
is asnp
is mentioned by
dbSNPrs786205111
ebirs786205111
HLIrs786205111
Exacrs786205111
Varsomers786205111
Maprs786205111
PheGenIrs786205111
hapmaprs786205111
1000 genomesrs786205111
hgdprs786205111
ensemblrs786205111
gopubmedrs786205111
geneviewrs786205111
scholarrs786205111
googlers786205111
pharmgkbrs786205111
gwascentralrs786205111
openSNPrs786205111
23andMers786205111
23andMe allrs786205111
SNP Nexus

SNPshotrs786205111
SNPdbers786205111
MSV3drs786205111
GWAS Ctlgrs786205111
Max Magnitude0
ClinVar
Risk rs786205111(;)
Alt rs786205111(;)
Reference rs786205111(CCATCTACACGG;CCATCTACACGG)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease and deafness
Variation info
Gene PMP22
CLNDBN Charcot-Marie-Tooth disease and deafness
Reversed 1
HGVS NC_000017.10:g.15134362_15134373delCCGTGTAGATGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000023073.4,