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rs786204699

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786204699(-;-)
Make rs786204699(-;GGCGCGGGGCT)
Make rs786204699(GGCGCGGGGCT;GGCGCGGGGCT)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position80106796
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs786204699
ebirs786204699
HLIrs786204699
Exacrs786204699
Varsomers786204699
Maprs786204699
PheGenIrs786204699
hapmaprs786204699
1000 genomesrs786204699
hgdprs786204699
ensemblrs786204699
gopubmedrs786204699
geneviewrs786204699
scholarrs786204699
googlers786204699
pharmgkbrs786204699
gwascentralrs786204699
openSNPrs786204699
23andMers786204699
23andMe allrs786204699
SNP Nexus

SNPshotrs786204699
SNPdbers786204699
MSV3drs786204699
GWAS Ctlgrs786204699
Max Magnitude0
ClinVar
Risk rs786204699(CTGGCGCGGGG;CTGGCGCGGGG)
Alt rs786204699(CTGGCGCGGGG;CTGGCGCGGGG)
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,