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rs766034355

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs766034355(C;T)
Make rs766034355(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position122938134
GeneSPATA5
is asnp
is mentioned by
dbSNPrs766034355
ebirs766034355
HLIrs766034355
Exacrs766034355
Varsomers766034355
Maprs766034355
PheGenIrs766034355
hapmaprs766034355
1000 genomesrs766034355
hgdprs766034355
ensemblrs766034355
gopubmedrs766034355
geneviewrs766034355
scholarrs766034355
googlers766034355
pharmgkbrs766034355
gwascentralrs766034355
openSNPrs766034355
23andMers766034355
23andMe allrs766034355
SNP Nexus

SNPshotrs766034355
SNPdbers766034355
MSV3drs766034355
GWAS Ctlgrs766034355
Max Magnitude0
ClinVar
Risk rs766034355(T;T)
Alt rs766034355(T;T)
Reference rs766034355(C;C)
Significance Pathogenic
Disease not provided Epilepsy
Variation info
Gene SPATA5
CLNDBN not provided Epilepsy, hearing loss, and mental retardation syndrome
Reversed 0
HGVS NC_000004.11:g.123859289C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000185651.2, RCV000193200.2,