rs373713279

Orientation

plus

Stabilized

plus

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

Make rs373713279(A;A)

Make rs373713279(A;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41422278

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs373713279
dbSNP (classic)	rs373713279
ClinGen	rs373713279
ebi	rs373713279
HLI	rs373713279
Exac	rs373713279
Gnomad	rs373713279
Varsome	rs373713279
LitVar	rs373713279
Map	rs373713279
PheGenI	rs373713279
Biobank	rs373713279
1000 genomes	rs373713279
hgdp	rs373713279
ensembl	rs373713279
geneview	rs373713279
scholar	rs373713279
google	rs373713279
pharmgkb	rs373713279
gwascentral	rs373713279
openSNP	rs373713279
23andMe	rs373713279
SNPshot	rs373713279
SNPdbe	rs373713279
MSV3d	rs373713279
GWAS Ctlg	rs373713279

Max Magnitude

0

ClinVar
Risk	rs373713279(A;A)
Alt	rs373713279(A;A)
Reference	Rs373713279(C;C)
Significance	Pathogenic
Disease	not provided Maple syrup urine disease
Variation	info
Gene	BCKDHA
CLNDBN	not provided Maple syrup urine disease
Reversed	0
HGVS	NC_000019.9:g.41928183C>A
CLNSRC	HGMD
CLNACC	RCV000079253.3, RCV000179338.1,