rs1057519059

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1057519059(AA;AA)

Make rs1057519059(AA;C)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

41414072

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs1057519059
dbSNP (classic)	rs1057519059
ClinGen	rs1057519059
ebi	rs1057519059
HLI	rs1057519059
Exac	rs1057519059
Gnomad	rs1057519059
Varsome	rs1057519059
LitVar	rs1057519059
Map	rs1057519059
PheGenI	rs1057519059
Biobank	rs1057519059
1000 genomes	rs1057519059
hgdp	rs1057519059
ensembl	rs1057519059
geneview	rs1057519059
scholar	rs1057519059
google	rs1057519059
pharmgkb	rs1057519059
gwascentral	rs1057519059
openSNP	rs1057519059
23andMe	rs1057519059
SNPshot	rs1057519059
SNPdbe	rs1057519059
MSV3d	rs1057519059
GWAS Ctlg	rs1057519059

Max Magnitude

0

ClinVar
Risk	rs1057519059(AA;AA)
Alt	rs1057519059(AA;AA)
Reference	Rs1057519059(C;C)
Significance	Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHA
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000019.9:g.41919977delCinsAA
CLNSRC
CLNACC	RCV000415547.1,