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rs796052095

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796052095(C;T)
Make rs796052095(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position122934147
GeneSPATA5
is asnp
is mentioned by
dbSNPrs796052095
ebirs796052095
HLIrs796052095
Exacrs796052095
Varsomers796052095
Maprs796052095
PheGenIrs796052095
hapmaprs796052095
1000 genomesrs796052095
hgdprs796052095
ensemblrs796052095
gopubmedrs796052095
geneviewrs796052095
scholarrs796052095
googlers796052095
pharmgkbrs796052095
gwascentralrs796052095
openSNPrs796052095
23andMers796052095
23andMe allrs796052095
SNP Nexus

SNPshotrs796052095
SNPdbers796052095
MSV3drs796052095
GWAS Ctlgrs796052095
Max Magnitude0
ClinVar
Risk rs796052095(T;T)
Alt rs796052095(T;T)
Reference rs796052095(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.123855302C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000186503.1, RCV000194235.2,