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rs367579275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367579275(A;A)
Make rs367579275(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position42688701
GeneKBTBD5
is asnp
is mentioned by
dbSNPrs367579275
ebirs367579275
HLIrs367579275
Exacrs367579275
Varsomers367579275
Maprs367579275
PheGenIrs367579275
hapmaprs367579275
1000 genomesrs367579275
hgdprs367579275
ensemblrs367579275
gopubmedrs367579275
geneviewrs367579275
scholarrs367579275
googlers367579275
pharmgkbrs367579275
gwascentralrs367579275
openSNPrs367579275
23andMers367579275
23andMe allrs367579275
SNP Nexus

SNPshotrs367579275
SNPdbers367579275
MSV3drs367579275
GWAS Ctlgrs367579275
Max Magnitude0
ClinVar
Risk rs367579275(A,T;A,T)
Alt rs367579275(A,T;A,T)
Reference rs367579275(G;G)
Significance Pathogenic
Disease Nemaline myopathy 8
Variation info
Gene KLHL40
CLNDBN Nemaline myopathy 8
Reversed 0
HGVS NC_000003.11:g.42730193G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054411.3,