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rs794727999

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727999(A;A)
Make rs794727999(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position103490747
GeneLOC101927870, RELN
is asnp
is mentioned by
dbSNPrs794727999
dbSNP (classic)rs794727999
ClinGenrs794727999
ebirs794727999
HLIrs794727999
Exacrs794727999
Gnomadrs794727999
Varsomers794727999
LitVarrs794727999
Maprs794727999
PheGenIrs794727999
Biobankrs794727999
1000 genomesrs794727999
hgdprs794727999
ensemblrs794727999
geneviewrs794727999
scholarrs794727999
googlers794727999
pharmgkbrs794727999
gwascentralrs794727999
openSNPrs794727999
23andMers794727999
SNPshotrs794727999
SNPdbers794727999
MSV3drs794727999
GWAS Ctlgrs794727999
Max Magnitude0
ClinVar
Risk rs794727999(A;A)
Alt rs794727999(A;A)
Reference Rs794727999(G;G)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene LOC101927870 RELN
CLNDBN Epilepsy, familial temporal lobe, 7
Reversed 1
HGVS NC_000007.13:g.103131194C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000180788.2,