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rs104893668

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893668(C;T)
Make rs104893668(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position85844542
GeneST3GAL5
is asnp
is mentioned by
dbSNPrs104893668
ebirs104893668
HLIrs104893668
Exacrs104893668
Varsomers104893668
Maprs104893668
PheGenIrs104893668
hapmaprs104893668
1000 genomesrs104893668
hgdprs104893668
ensemblrs104893668
gopubmedrs104893668
geneviewrs104893668
scholarrs104893668
googlers104893668
pharmgkbrs104893668
gwascentralrs104893668
openSNPrs104893668
23andMers104893668
23andMe allrs104893668
SNP Nexus

SNPshotrs104893668
SNPdbers104893668
MSV3drs104893668
GWAS Ctlgrs104893668
Max Magnitude0
OMIM604402
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893668(T;T)
Alt rs104893668(T;T)
Reference rs104893668(C;C)
Significance Pathogenic
Disease Amish infantile epilepsy syndrome
Variation info
Gene ST3GAL5
CLNDBN Amish infantile epilepsy syndrome
Reversed 1
HGVS NC_000002.11:g.86071665G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005895.3,