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rs150857620

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs150857620(C;C)
Make rs150857620(C;T)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position72294395
GeneCLPB
is asnp
is mentioned by
dbSNPrs150857620
dbSNP (old)rs150857620
ClinGenrs150857620
ebirs150857620
HLIrs150857620
Exacrs150857620
Gnomadrs150857620
Varsomers150857620
Maprs150857620
PheGenIrs150857620
Biobankrs150857620
1000 genomesrs150857620
hgdprs150857620
ensemblrs150857620
gopubmedrs150857620
geneviewrs150857620
scholarrs150857620
googlers150857620
pharmgkbrs150857620
gwascentralrs150857620
openSNPrs150857620
23andMers150857620
23andMe allrs150857620
SNPshotrs150857620
SNPdbers150857620
MSV3drs150857620
GWAS Ctlgrs150857620
Max Magnitude0
ClinVar
Risk rs150857620(A;A) rs150857620(C;C)
Alt rs150857620(A;A) rs150857620(C;C)
Reference Rs150857620(T;T)
Significance Pathogenic
Disease 3-methylglutaconic aciduria with cataracts
Variation info
Gene CLPB
CLNDBN 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
Reversed 0
HGVS NC_000011.9:g.72005439T>C
CLNSRC
CLNACC RCV000258952.1,