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rs398124575

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124575(C;T)
Make rs398124575(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position80167699
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs398124575
dbSNP (classic)rs398124575
ClinGenrs398124575
ebirs398124575
HLIrs398124575
Exacrs398124575
Gnomadrs398124575
Varsomers398124575
LitVarrs398124575
Maprs398124575
PheGenIrs398124575
Biobankrs398124575
1000 genomesrs398124575
hgdprs398124575
ensemblrs398124575
geneviewrs398124575
scholarrs398124575
googlers398124575
pharmgkbrs398124575
gwascentralrs398124575
openSNPrs398124575
23andMers398124575
SNPshotrs398124575
SNPdbers398124575
MSV3drs398124575
GWAS Ctlgrs398124575
Max Magnitude0
ClinVar
Risk rs398124575(A;A) rs398124575(T;T)
Alt rs398124575(A;A) rs398124575(T;T)
Reference Rs398124575(C;C)
Significance Probable-Pathogenic
Disease Maple syrup urine disease not specified
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease not specified
Reversed 0
HGVS NC_000006.11:g.80877416C>A; NC_000006.11:g.80877416C>T
CLNSRC
CLNACC RCV000449606.1, RCV000082740.4,