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rs1138484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1138484(A;G)
Make rs1138484(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position85861188
GeneST3GAL5
is asnp
is mentioned by
dbSNPrs1138484
dbSNP (classic)rs1138484
ClinGenrs1138484
ebirs1138484
HLIrs1138484
Exacrs1138484
Gnomadrs1138484
Varsomers1138484
LitVarrs1138484
Maprs1138484
PheGenIrs1138484
Biobankrs1138484
1000 genomesrs1138484
hgdprs1138484
ensemblrs1138484
geneviewrs1138484
scholarrs1138484
googlers1138484
pharmgkbrs1138484
gwascentralrs1138484
openSNPrs1138484
23andMers1138484
SNPshotrs1138484
SNPdbers1138484
MSV3drs1138484
GWAS Ctlgrs1138484
Merged fromRs3731824
GMAF0.185
Max Magnitude0
? (A;A) (A;G) (G;G) 28


ClinVar
Risk rs1138484(G;G)
Alt rs1138484(G;G)
Reference Rs1138484(A;A)
Significance Non-pathogenic
Disease not specified Amish infantile epilepsy syndrome
Variation info
Gene ST3GAL5
CLNDBN not specified Amish infantile epilepsy syndrome
Reversed 1
HGVS NC_000002.11:g.86088311T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000118422.2, RCV000305958.1,