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rs796051892

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796051892(C;T)
Make rs796051892(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position123313913
GeneSPATA5
is asnp
is mentioned by
dbSNPrs796051892
ebirs796051892
HLIrs796051892
Exacrs796051892
Varsomers796051892
Maprs796051892
PheGenIrs796051892
hapmaprs796051892
1000 genomesrs796051892
hgdprs796051892
ensemblrs796051892
gopubmedrs796051892
geneviewrs796051892
scholarrs796051892
googlers796051892
pharmgkbrs796051892
gwascentralrs796051892
openSNPrs796051892
23andMers796051892
23andMe allrs796051892
SNP Nexus

SNPshotrs796051892
SNPdbers796051892
MSV3drs796051892
GWAS Ctlgrs796051892
Max Magnitude0
ClinVar
Risk rs796051892(T;T)
Alt rs796051892(T;T)
Reference rs796051892(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.124235068C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000185654.1, RCV000193832.2,