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rs796051891

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATGCT;ATGCT) 0 common in clinvar
Make rs796051891(-;-)
Make rs796051891(-;ATGCT)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position122947348
GeneSPATA5
is asnp
is mentioned by
dbSNPrs796051891
ClinGenrs796051891
ebirs796051891
HLIrs796051891
Exacrs796051891
Varsomers796051891
Maprs796051891
PheGenIrs796051891
hapmaprs796051891
1000 genomesrs796051891
hgdprs796051891
ensemblrs796051891
gopubmedrs796051891
geneviewrs796051891
scholarrs796051891
googlers796051891
pharmgkbrs796051891
gwascentralrs796051891
openSNPrs796051891
23andMers796051891
23andMe allrs796051891
SNP Nexus

SNPshotrs796051891
SNPdbers796051891
MSV3drs796051891
GWAS Ctlgrs796051891
Max Magnitude0
ClinVar
Risk rs796051891(-;-)
Alt rs796051891(-;-)
Reference Rs796051891(ATGCT;ATGCT)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene SPATA5
CLNDBN Epilepsy, hearing loss, and mental retardation syndrome
Reversed 0
HGVS NC_000004.11:g.123868503_123868507delATGCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000195144.2,