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rs398124601

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGGCGCGGGG;CTGGCGCGGGG) 0 common in clinvar
(GGCGCGGGGCT;GGCGCGGGGCT) 0 common in clinvar
Make rs398124601(-;-)
Make rs398124601(-;GGCGCGGGGCT)
ReferenceGRCh38 38.1/141
Chromosome6
Position80106786
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124601
ebirs398124601
HLIrs398124601
Exacrs398124601
Varsomers398124601
Maprs398124601
PheGenIrs398124601
hapmaprs398124601
1000 genomesrs398124601
hgdprs398124601
ensemblrs398124601
gopubmedrs398124601
geneviewrs398124601
scholarrs398124601
googlers398124601
pharmgkbrs398124601
gwascentralrs398124601
openSNPrs398124601
23andMers398124601
23andMe allrs398124601
SNP Nexus

SNPshotrs398124601
SNPdbers398124601
MSV3drs398124601
GWAS Ctlgrs398124601
Max Magnitude0
ClinVar
Risk rs398124601(;)
Alt rs398124601(;)
Reference rs398124601(CTGGCGCGGGG;CTGGCGCGGGG)
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, RCV000173586.1,