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rs200549195

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200549195(C;T)
Make rs200549195(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position65077557
GeneKBTBD13
is asnp
is mentioned by
dbSNPrs200549195
ebirs200549195
HLIrs200549195
Exacrs200549195
Varsomers200549195
Maprs200549195
PheGenIrs200549195
hapmaprs200549195
1000 genomesrs200549195
hgdprs200549195
ensemblrs200549195
gopubmedrs200549195
geneviewrs200549195
scholarrs200549195
googlers200549195
pharmgkbrs200549195
gwascentralrs200549195
openSNPrs200549195
23andMers200549195
23andMe allrs200549195
SNP Nexus

SNPshotrs200549195
SNPdbers200549195
MSV3drs200549195
GWAS Ctlgrs200549195
Max Magnitude0
ClinVar
Risk rs200549195(A,T;A,T)
Alt rs200549195(A,T;A,T)
Reference rs200549195(C;C)
Significance Pathogenic
Disease Nemaline myopathy 6
Variation info
Gene KBTBD13
CLNDBN Nemaline myopathy 6
Reversed 0
HGVS NC_000015.9:g.65369895C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024057.2,