rs375785084

Orientation

plus

Stabilized

plus

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

Make rs375785084(C;T)

Make rs375785084(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41422176

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs375785084
dbSNP (classic)	rs375785084
ClinGen	rs375785084
ebi	rs375785084
HLI	rs375785084
Exac	rs375785084
Gnomad	rs375785084
Varsome	rs375785084
LitVar	rs375785084
Map	rs375785084
PheGenI	rs375785084
Biobank	rs375785084
1000 genomes	rs375785084
hgdp	rs375785084
ensembl	rs375785084
geneview	rs375785084
scholar	rs375785084
google	rs375785084
pharmgkb	rs375785084
gwascentral	rs375785084
openSNP	rs375785084
23andMe	rs375785084
SNPshot	rs375785084
SNPdbe	rs375785084
MSV3d	rs375785084
GWAS Ctlg	rs375785084

Max Magnitude

0

ClinVar
Risk	rs375785084(T;T)
Alt	rs375785084(T;T)
Reference	Rs375785084(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.41928081C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000079249.3, RCV000179335.1,