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rs794729222

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794729222(A;A)
Make rs794729222(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position2538678
GeneBRAT1
is asnp
is mentioned by
dbSNPrs794729222
ebirs794729222
HLIrs794729222
Exacrs794729222
Varsomers794729222
Maprs794729222
PheGenIrs794729222
hapmaprs794729222
1000 genomesrs794729222
hgdprs794729222
ensemblrs794729222
gopubmedrs794729222
geneviewrs794729222
scholarrs794729222
googlers794729222
pharmgkbrs794729222
gwascentralrs794729222
openSNPrs794729222
23andMers794729222
23andMe allrs794729222
SNP Nexus

SNPshotrs794729222
SNPdbers794729222
MSV3drs794729222
GWAS Ctlgrs794729222
Max Magnitude0
ClinVar
Risk rs794729222(A;A)
Alt rs794729222(A;A)
Reference rs794729222(G;G)
Significance Pathogenic
Disease Rigidity and multifocal seizure syndrome
Variation info
Gene BRAT1
CLNDBN Rigidity and multifocal seizure syndrome, lethal neonatal
Reversed 1
HGVS NC_000007.13:g.2578312C>T
CLNSRC
CLNACC RCV000184043.1,