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rs397515454

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515454(-;-)
Make rs397515454(-;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position6477534
GenePLEKHG5
is asnp
is mentioned by
dbSNPrs397515454
ebirs397515454
HLIrs397515454
Exacrs397515454
Varsomers397515454
Maprs397515454
PheGenIrs397515454
hapmaprs397515454
1000 genomesrs397515454
hgdprs397515454
ensemblrs397515454
gopubmedrs397515454
geneviewrs397515454
scholarrs397515454
googlers397515454
pharmgkbrs397515454
gwascentralrs397515454
openSNPrs397515454
23andMers397515454
23andMe allrs397515454
SNP Nexus

SNPshotrs397515454
SNPdbers397515454
MSV3drs397515454
GWAS Ctlgrs397515454
Max Magnitude0
ClinVar
Risk rs397515454(;)
Alt rs397515454(;)
Reference rs397515454(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene PLEKHG5
CLNDBN Charcot-Marie-Tooth disease, recessive intermediate c
Reversed 1
HGVS NC_000001.10:g.6537594delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000054544.3,