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rs387906943

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906943(A;A)
Make rs387906943(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position43736300
GeneST3GAL3
is asnp
is mentioned by
dbSNPrs387906943
dbSNP (classic)rs387906943
ClinGenrs387906943
ebirs387906943
HLIrs387906943
Exacrs387906943
Gnomadrs387906943
Varsomers387906943
LitVarrs387906943
Maprs387906943
PheGenIrs387906943
Biobankrs387906943
1000 genomesrs387906943
hgdprs387906943
ensemblrs387906943
geneviewrs387906943
scholarrs387906943
googlers387906943
pharmgkbrs387906943
gwascentralrs387906943
openSNPrs387906943
23andMers387906943
SNPshotrs387906943
SNPdbers387906943
MSV3drs387906943
GWAS Ctlgrs387906943
Max Magnitude0
ClinVar
Risk rs387906943(A;A)
Alt rs387906943(A;A)
Reference Rs387906943(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene ST3GAL3
CLNDBN Mental retardation, autosomal recessive 12
Reversed 0
HGVS NC_000001.10:g.44201971C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023551.2,