rs869312124

Orientation

plus

Stabilized

plus

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

Make rs869312124(C;C)

Make rs869312124(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

41422361

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs869312124
dbSNP (classic)	rs869312124
ClinGen	rs869312124
ebi	rs869312124
HLI	rs869312124
Exac	rs869312124
Gnomad	rs869312124
Varsome	rs869312124
LitVar	rs869312124
Map	rs869312124
PheGenI	rs869312124
Biobank	rs869312124
1000 genomes	rs869312124
hgdp	rs869312124
ensembl	rs869312124
geneview	rs869312124
scholar	rs869312124
google	rs869312124
pharmgkb	rs869312124
gwascentral	rs869312124
openSNP	rs869312124
23andMe	rs869312124
SNPshot	rs869312124
SNPdbe	rs869312124
MSV3d	rs869312124
GWAS Ctlg	rs869312124

Max Magnitude

0

ClinVar
Risk	rs869312124(C;C)
Alt	rs869312124(C;C)
Reference	Rs869312124(G;G)
Significance	Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHA
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000019.9:g.41928266G>C
CLNSRC
CLNACC	RCV000209700.1,