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rs397509419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509419(A;A)
Make rs397509419(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position42689029
GeneKBTBD5
is asnp
is mentioned by
dbSNPrs397509419
ebirs397509419
HLIrs397509419
Exacrs397509419
Varsomers397509419
Maprs397509419
PheGenIrs397509419
hapmaprs397509419
1000 genomesrs397509419
hgdprs397509419
ensemblrs397509419
gopubmedrs397509419
geneviewrs397509419
scholarrs397509419
googlers397509419
pharmgkbrs397509419
gwascentralrs397509419
openSNPrs397509419
23andMers397509419
23andMe allrs397509419
SNP Nexus

SNPshotrs397509419
SNPdbers397509419
MSV3drs397509419
GWAS Ctlgrs397509419
Max Magnitude0
ClinVar
Risk rs397509419(A;A)
Alt rs397509419(A;A)
Reference rs397509419(G;G)
Significance Pathogenic
Disease Nemaline myopathy 8
Variation info
Gene KLHL40
CLNDBN Nemaline myopathy 8
Reversed 0
HGVS NC_000003.11:g.42730521G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054410.2,