rs786204699

Orientation

plus

Stabilized

plus

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

Make rs786204699(-;GGCGCGGGGCT)

Make rs786204699(GGCGCGGGGCT;GGCGCGGGGCT)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

80106796

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs786204699
dbSNP (classic)	rs786204699
ClinGen	rs786204699
ebi	rs786204699
HLI	rs786204699
Exac	rs786204699
Gnomad	rs786204699
Varsome	rs786204699
LitVar	rs786204699
Map	rs786204699
PheGenI	rs786204699
Biobank	rs786204699
1000 genomes	rs786204699
hgdp	rs786204699
ensembl	rs786204699
geneview	rs786204699
scholar	rs786204699
google	rs786204699
pharmgkb	rs786204699
gwascentral	rs786204699
openSNP	rs786204699
23andMe	rs786204699
SNPshot	rs786204699
SNPdbe	rs786204699
MSV3d	rs786204699
GWAS Ctlg	rs786204699

Max Magnitude

0

ClinVar
Risk	rs786204699(CTGGCGCGGGG;CTGGCGCGGGG) rs786204699(GGCGCGGGGCT;GGCGCGGGGCT)
Alt	rs786204699(CTGGCGCGGGG;CTGGCGCGGGG) rs786204699(GGCGCGGGGCT;GGCGCGGGGCT)
Reference	Rs786204699(-;-)
Significance	Probable-Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHB
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000006.11:g.80816503_80816513dupGGCGCGGGGCT
CLNSRC	Counsyl
CLNACC	RCV000169513.1,