rs869312125

Orientation

plus

Stabilized

plus

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

Make rs869312125(A;C)

Make rs869312125(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

41414143

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs869312125
dbSNP (classic)	rs869312125
ClinGen	rs869312125
ebi	rs869312125
HLI	rs869312125
Exac	rs869312125
Gnomad	rs869312125
Varsome	rs869312125
LitVar	rs869312125
Map	rs869312125
PheGenI	rs869312125
Biobank	rs869312125
1000 genomes	rs869312125
hgdp	rs869312125
ensembl	rs869312125
geneview	rs869312125
scholar	rs869312125
google	rs869312125
pharmgkb	rs869312125
gwascentral	rs869312125
openSNP	rs869312125
23andMe	rs869312125
SNPshot	rs869312125
SNPdbe	rs869312125
MSV3d	rs869312125
GWAS Ctlg	rs869312125

Max Magnitude

0

ClinVar
Risk	rs869312125(C;C)
Alt	rs869312125(C;C)
Reference	Rs869312125(A;A)
Significance	Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHA
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000019.9:g.41920048A>C
CLNSRC
CLNACC	RCV000209796.1,