rs398124601

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CTGGCGCGGGG;CTGGCGCGGGG)	0	common in clinvar
(GGCGCGGGGCT;GGCGCGGGGCT)	0	common in clinvar

Make rs398124601(-;-)

Make rs398124601(-;GGCGCGGGGCT)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80106786

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124601
dbSNP (classic)	rs398124601
ClinGen	rs398124601
ebi	rs398124601
HLI	rs398124601
Exac	rs398124601
Gnomad	rs398124601
Varsome	rs398124601
LitVar	rs398124601
Map	rs398124601
PheGenI	rs398124601
Biobank	rs398124601
1000 genomes	rs398124601
hgdp	rs398124601
ensembl	rs398124601
geneview	rs398124601
scholar	rs398124601
google	rs398124601
pharmgkb	rs398124601
gwascentral	rs398124601
openSNP	rs398124601
23andMe	rs398124601
SNPshot	rs398124601
SNPdbe	rs398124601
MSV3d	rs398124601
GWAS Ctlg	rs398124601

Max Magnitude

0

ClinVar
Risk	rs398124601(-;-) Rs398124601(CTGGCGCGGGG;CTGGCGCGGGG)
Alt	rs398124601(-;-) Rs398124601(CTGGCGCGGGG;CTGGCGCGGGG)
Reference	Rs398124601(GGCGCGGGGCT;GGCGCGGGGCT)
Significance	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.80816503_80816513delGGCGCGGGGCT
CLNSRC	HGMD
CLNACC	RCV000082778.3, RCV000173586.2,