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rs397509420

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509420(G;T)
Make rs397509420(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position42686220
GeneKBTBD5
is asnp
is mentioned by
dbSNPrs397509420
ebirs397509420
HLIrs397509420
Exacrs397509420
Varsomers397509420
Maprs397509420
PheGenIrs397509420
hapmaprs397509420
1000 genomesrs397509420
hgdprs397509420
ensemblrs397509420
gopubmedrs397509420
geneviewrs397509420
scholarrs397509420
googlers397509420
pharmgkbrs397509420
gwascentralrs397509420
openSNPrs397509420
23andMers397509420
23andMe allrs397509420
SNP Nexus

SNPshotrs397509420
SNPdbers397509420
MSV3drs397509420
GWAS Ctlgrs397509420
Max Magnitude0
ClinVar
Risk rs397509420(A,T;A,T)
Alt rs397509420(A,T;A,T)
Reference rs397509420(G;G)
Significance Pathogenic
Disease Nemaline myopathy 8
Variation info
Gene KLHL40
CLNDBN Nemaline myopathy 8
Reversed 0
HGVS NC_000003.11:g.42727712G>A; NC_000003.11:g.42727712G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054414.3, RCV000054412.3,