rs182923857

Orientation

plus

Stabilized

plus

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

Make rs182923857(C;T)

Make rs182923857(T;T)

Reference

GRCh38 38.1/142

Chromosome

19

Position

41423038

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs182923857
dbSNP (classic)	rs182923857
ClinGen	rs182923857
ebi	rs182923857
HLI	rs182923857
Exac	rs182923857
Gnomad	rs182923857
Varsome	rs182923857
LitVar	rs182923857
Map	rs182923857
PheGenI	rs182923857
Biobank	rs182923857
1000 genomes	rs182923857
hgdp	rs182923857
ensembl	rs182923857
geneview	rs182923857
scholar	rs182923857
google	rs182923857
pharmgkb	rs182923857
gwascentral	rs182923857
openSNP	rs182923857
23andMe	rs182923857
SNPshot	rs182923857
SNPdbe	rs182923857
MSV3d	rs182923857
GWAS Ctlg	rs182923857

Max Magnitude

0

ClinVar
Risk	rs182923857(T;T)
Alt	rs182923857(T;T)
Reference	Rs182923857(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.41928943C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000079216.3, RCV000180181.1,