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rs794727998

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794727998(A;G)
Make rs794727998(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position103636250
GeneRELN
is asnp
is mentioned by
dbSNPrs794727998
dbSNP (classic)rs794727998
ClinGenrs794727998
ebirs794727998
HLIrs794727998
Exacrs794727998
Gnomadrs794727998
Varsomers794727998
LitVarrs794727998
Maprs794727998
PheGenIrs794727998
Biobankrs794727998
1000 genomesrs794727998
hgdprs794727998
ensemblrs794727998
geneviewrs794727998
scholarrs794727998
googlers794727998
pharmgkbrs794727998
gwascentralrs794727998
openSNPrs794727998
23andMers794727998
SNPshotrs794727998
SNPdbers794727998
MSV3drs794727998
GWAS Ctlgrs794727998
Max Magnitude0
ClinVar
Risk rs794727998(G;G)
Alt rs794727998(G;G)
Reference Rs794727998(A;A)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene RELN
CLNDBN Epilepsy, familial temporal lobe, 7
Reversed 1
HGVS NC_000007.13:g.103276697T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000180787.2,