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rs796051895

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796051895(A;A)
Make rs796051895(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position122929049
GeneSPATA5
is asnp
is mentioned by
dbSNPrs796051895
ebirs796051895
HLIrs796051895
Exacrs796051895
Varsomers796051895
Maprs796051895
PheGenIrs796051895
hapmaprs796051895
1000 genomesrs796051895
hgdprs796051895
ensemblrs796051895
gopubmedrs796051895
geneviewrs796051895
scholarrs796051895
googlers796051895
pharmgkbrs796051895
gwascentralrs796051895
openSNPrs796051895
23andMers796051895
23andMe allrs796051895
SNP Nexus

SNPshotrs796051895
SNPdbers796051895
MSV3drs796051895
GWAS Ctlgrs796051895
Max Magnitude0
ClinVar
Risk rs796051895(A;A)
Alt rs796051895(A;A)
Reference rs796051895(G;G)
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.123850204G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000185660.1, RCV000192647.2,