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rs794729645

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs794729645(-;-)
Make rs794729645(-;CA)
Make rs794729645(CA;CA)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position137106146
GeneMAN1B1
is asnp
is mentioned by
dbSNPrs794729645
dbSNP (classic)rs794729645
ClinGenrs794729645
ebirs794729645
HLIrs794729645
Exacrs794729645
Gnomadrs794729645
Varsomers794729645
LitVarrs794729645
Maprs794729645
PheGenIrs794729645
Biobankrs794729645
1000 genomesrs794729645
hgdprs794729645
ensemblrs794729645
geneviewrs794729645
scholarrs794729645
googlers794729645
pharmgkbrs794729645
gwascentralrs794729645
openSNPrs794729645
23andMers794729645
SNPshotrs794729645
SNPdbers794729645
MSV3drs794729645
GWAS Ctlgrs794729645
Max Magnitude0
ClinVar
Risk rs794729645(-;-)
Alt rs794729645(-;-)
Reference Rs794729645(AC;AC)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene MAN1B1
CLNDBN Mental retardation, autosomal recessive 15
Reversed 0
HGVS NC_000009.11:g.140000598_140000599delCA
CLNSRC
CLNACC RCV000185553.2,