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rs797045000

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045000(C;T)
Make rs797045000(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position103630111
GeneRELN
is asnp
is mentioned by
dbSNPrs797045000
dbSNP (classic)rs797045000
ClinGenrs797045000
ebirs797045000
HLIrs797045000
Exacrs797045000
Gnomadrs797045000
Varsomers797045000
LitVarrs797045000
Maprs797045000
PheGenIrs797045000
Biobankrs797045000
1000 genomesrs797045000
hgdprs797045000
ensemblrs797045000
geneviewrs797045000
scholarrs797045000
googlers797045000
pharmgkbrs797045000
gwascentralrs797045000
openSNPrs797045000
23andMers797045000
SNPshotrs797045000
SNPdbers797045000
MSV3drs797045000
GWAS Ctlgrs797045000
Max Magnitude0
ClinVar
Risk rs797045000(T;T)
Alt rs797045000(T;T)
Reference Rs797045000(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene RELN
CLNDBN Epilepsy, familial temporal lobe, 7
Reversed 1
HGVS NC_000007.13:g.103270558G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000194840.1,