rs753698250

Orientation

plus

Stabilized

plus

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

Make rs753698250(A;A)

Make rs753698250(A;C)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

41422715

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs753698250
dbSNP (classic)	rs753698250
ClinGen	rs753698250
ebi	rs753698250
HLI	rs753698250
Exac	rs753698250
Gnomad	rs753698250
Varsome	rs753698250
LitVar	rs753698250
Map	rs753698250
PheGenI	rs753698250
Biobank	rs753698250
1000 genomes	rs753698250
hgdp	rs753698250
ensembl	rs753698250
geneview	rs753698250
scholar	rs753698250
google	rs753698250
pharmgkb	rs753698250
gwascentral	rs753698250
openSNP	rs753698250
23andMe	rs753698250
SNPshot	rs753698250
SNPdbe	rs753698250
MSV3d	rs753698250
GWAS Ctlg	rs753698250

Max Magnitude

0

ClinVar
Risk	rs753698250(A;A) rs753698250(T;T)
Alt	rs753698250(A;A) rs753698250(T;T)
Reference	Rs753698250(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.41928620C>T
CLNSRC
CLNACC	RCV000209887.1,