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rs397515456

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515456(C;T)
Make rs397515456(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position6469396
GenePLEKHG5
is asnp
is mentioned by
dbSNPrs397515456
ebirs397515456
HLIrs397515456
Exacrs397515456
Varsomers397515456
Maprs397515456
PheGenIrs397515456
hapmaprs397515456
1000 genomesrs397515456
hgdprs397515456
ensemblrs397515456
gopubmedrs397515456
geneviewrs397515456
scholarrs397515456
googlers397515456
pharmgkbrs397515456
gwascentralrs397515456
openSNPrs397515456
23andMers397515456
23andMe allrs397515456
SNP Nexus

SNPshotrs397515456
SNPdbers397515456
MSV3drs397515456
GWAS Ctlgrs397515456
Max Magnitude0
ClinVar
Risk rs397515456(T;T)
Alt rs397515456(T;T)
Reference rs397515456(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.6529456G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054547.4,