rs398124562

Orientation

plus

Stabilized

plus

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

Make rs398124562(A;A)

Make rs398124562(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80343671

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124562
dbSNP (classic)	rs398124562
ClinGen	rs398124562
ebi	rs398124562
HLI	rs398124562
Exac	rs398124562
Gnomad	rs398124562
Varsome	rs398124562
LitVar	rs398124562
Map	rs398124562
PheGenI	rs398124562
Biobank	rs398124562
1000 genomes	rs398124562
hgdp	rs398124562
ensembl	rs398124562
geneview	rs398124562
scholar	rs398124562
google	rs398124562
pharmgkb	rs398124562
gwascentral	rs398124562
openSNP	rs398124562
23andMe	rs398124562
SNPshot	rs398124562
SNPdbe	rs398124562
MSV3d	rs398124562
GWAS Ctlg	rs398124562

Max Magnitude

0

ClinVar
Risk	rs398124562(A;A)
Alt	rs398124562(A;A)
Reference	Rs398124562(G;G)
Significance	Probable-Pathogenic
Disease	not provided Maple syrup urine disease
Variation	info
Gene	BCKDHB
CLNDBN	not provided Maple syrup urine disease
Reversed	0
HGVS	NC_000006.11:g.81053388G>A
CLNSRC	HGMD
CLNACC	RCV000082721.3, RCV000173927.1,