Have questions? Visit https://www.reddit.com/r/SNPedia

rs387907090

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907090(C;T)
Make rs387907090(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position65078037
GeneKBTBD13
is asnp
is mentioned by
dbSNPrs387907090
ebirs387907090
HLIrs387907090
Exacrs387907090
Varsomers387907090
Maprs387907090
PheGenIrs387907090
hapmaprs387907090
1000 genomesrs387907090
hgdprs387907090
ensemblrs387907090
gopubmedrs387907090
geneviewrs387907090
scholarrs387907090
googlers387907090
pharmgkbrs387907090
gwascentralrs387907090
openSNPrs387907090
23andMers387907090
23andMe allrs387907090
SNP Nexus

SNPshotrs387907090
SNPdbers387907090
MSV3drs387907090
GWAS Ctlgrs387907090
Max Magnitude0
ClinVar
Risk rs387907090(A,T;A,T)
Alt rs387907090(A,T;A,T)
Reference rs387907090(C;C)
Significance Pathogenic
Disease Nemaline myopathy 6
Variation info
Gene KBTBD13
CLNDBN Nemaline myopathy 6
Reversed 0
HGVS NC_000015.9:g.65370375C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024056.2,