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rs727505363

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727505363(C;C)
Make rs727505363(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position2547430
GeneBRAT1
is asnp
is mentioned by
dbSNPrs727505363
ebirs727505363
HLIrs727505363
Exacrs727505363
Varsomers727505363
Maprs727505363
PheGenIrs727505363
hapmaprs727505363
1000 genomesrs727505363
hgdprs727505363
ensemblrs727505363
gopubmedrs727505363
geneviewrs727505363
scholarrs727505363
googlers727505363
pharmgkbrs727505363
gwascentralrs727505363
openSNPrs727505363
23andMers727505363
23andMe allrs727505363
SNP Nexus

SNPshotrs727505363
SNPdbers727505363
MSV3drs727505363
GWAS Ctlgrs727505363
Max Magnitude0
ClinVar
Risk rs727505363(C;C)
Alt rs727505363(C;C)
Reference rs727505363(T;T)
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.2587064A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000156936.4,