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rs786200966

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786200966(-;C)
Make rs786200966(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position41410645
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs786200966
dbSNP (classic)rs786200966
ClinGenrs786200966
ebirs786200966
HLIrs786200966
Exacrs786200966
Gnomadrs786200966
Varsomers786200966
LitVarrs786200966
Maprs786200966
PheGenIrs786200966
Biobankrs786200966
1000 genomesrs786200966
hgdprs786200966
ensemblrs786200966
geneviewrs786200966
scholarrs786200966
googlers786200966
pharmgkbrs786200966
gwascentralrs786200966
openSNPrs786200966
23andMers786200966
SNPshotrs786200966
SNPdbers786200966
MSV3drs786200966
GWAS Ctlgrs786200966
Max Magnitude0
ClinVar
Risk rs786200966(C;C)
Alt rs786200966(C;C)
Reference Rs786200966(-;-)
Significance Pathogenic
Disease not provided
Variation info
Gene BCKDHA
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.41916550dupC
CLNSRC HGMD
CLNACC RCV000152848.4,