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rs397515455

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397515455(-;-)
Make rs397515455(-;TGAAGAC)
Make rs397515455(TGAAGAC;TGAAGAC)
ReferenceGRCh38 38.1/141
Chromosome1
Position6473051
GenePLEKHG5
is asnp
is mentioned by
dbSNPrs397515455
ebirs397515455
HLIrs397515455
Exacrs397515455
Varsomers397515455
Maprs397515455
PheGenIrs397515455
hapmaprs397515455
1000 genomesrs397515455
hgdprs397515455
ensemblrs397515455
gopubmedrs397515455
geneviewrs397515455
scholarrs397515455
googlers397515455
pharmgkbrs397515455
gwascentralrs397515455
openSNPrs397515455
23andMers397515455
23andMe allrs397515455
SNP Nexus

SNPshotrs397515455
SNPdbers397515455
MSV3drs397515455
GWAS Ctlgrs397515455
Max Magnitude0
ClinVar
Risk rs397515455(TGAAGAC;TGAAGAC)
Alt rs397515455(TGAAGAC;TGAAGAC)
Reference rs397515455(;)
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.6533112_6533118dupGTCTTCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000054545.4,