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rs534438354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs534438354(C;T)
Make rs534438354(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position85840338
GeneST3GAL5
is asnp
is mentioned by
dbSNPrs534438354
ebirs534438354
HLIrs534438354
Exacrs534438354
Varsomers534438354
Maprs534438354
PheGenIrs534438354
hapmaprs534438354
1000 genomesrs534438354
hgdprs534438354
ensemblrs534438354
gopubmedrs534438354
geneviewrs534438354
scholarrs534438354
googlers534438354
pharmgkbrs534438354
gwascentralrs534438354
openSNPrs534438354
23andMers534438354
23andMe allrs534438354
SNP Nexus

SNPshotrs534438354
SNPdbers534438354
MSV3drs534438354
GWAS Ctlgrs534438354
Max Magnitude0
ClinVar
Risk rs534438354(T;T)
Alt rs534438354(T;T)
Reference rs534438354(C;C)
Significance Pathogenic
Disease Amish infantile epilepsy syndrome
Variation info
Gene ST3GAL5
CLNDBN Amish infantile epilepsy syndrome
Reversed 0
HGVS NC_000002.11:g.86067461C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128792.2,