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rs397509421

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509421(C;C)
Make rs397509421(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position42690863
GeneKBTBD5
is asnp
is mentioned by
dbSNPrs397509421
ebirs397509421
HLIrs397509421
Exacrs397509421
Varsomers397509421
Maprs397509421
PheGenIrs397509421
hapmaprs397509421
1000 genomesrs397509421
hgdprs397509421
ensemblrs397509421
gopubmedrs397509421
geneviewrs397509421
scholarrs397509421
googlers397509421
pharmgkbrs397509421
gwascentralrs397509421
openSNPrs397509421
23andMers397509421
23andMe allrs397509421
SNP Nexus

SNPshotrs397509421
SNPdbers397509421
MSV3drs397509421
GWAS Ctlgrs397509421
Max Magnitude0
ClinVar
Risk rs397509421(A,C;A,C)
Alt rs397509421(A,C;A,C)
Reference rs397509421(G;G)
Significance Pathogenic
Disease Nemaline myopathy 8
Variation info
Gene KLHL40
CLNDBN Nemaline myopathy 8
Reversed 0
HGVS NC_000003.11:g.42732355G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000054413.3,