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rs3731824

From SNPedia

Merged intors1138484
Orientationminus
Stabilizedminus
Make rs3731824(A;A)
Make rs3731824(A;G)
Make rs3731824(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position85861188
GeneST3GAL5
is asnp
is mentioned by
dbSNPrs3731824
ebirs3731824
HLIrs3731824
Exacrs3731824
Varsomers3731824
Maprs3731824
PheGenIrs3731824
hapmaprs3731824
1000 genomesrs3731824
hgdprs3731824
ensemblrs3731824
gopubmedrs3731824
geneviewrs3731824
scholarrs3731824
googlers3731824
pharmgkbrs3731824
gwascentralrs3731824
openSNPrs3731824
23andMers3731824
23andMe allrs3731824
SNP Nexus

SNPshotrs3731824
SNPdbers3731824
MSV3drs3731824
GWAS Ctlgrs3731824
StatusMerged into rs1138484
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene ST3GAL5
allele C
frequency 0.242
sift TOLERATED
HuRef 1103658153700
Disease Association Defects in ST3GAL5 are the cause of Amish infantile epilepsy syndrome (MIM:609056). It is an autosomal recessive disorder characterized by infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness.



GET Evidence
ST3GAL5-H104R
aa_change His104Arg
aa_change_short H104R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.157743
summary