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rs727505365

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727505365(-;-)
Make rs727505365(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position2541442
GeneBRAT1
is asnp
is mentioned by
dbSNPrs727505365
ebirs727505365
HLIrs727505365
Exacrs727505365
Varsomers727505365
Maprs727505365
PheGenIrs727505365
hapmaprs727505365
1000 genomesrs727505365
hgdprs727505365
ensemblrs727505365
gopubmedrs727505365
geneviewrs727505365
scholarrs727505365
googlers727505365
pharmgkbrs727505365
gwascentralrs727505365
openSNPrs727505365
23andMers727505365
23andMe allrs727505365
SNP Nexus

SNPshotrs727505365
SNPdbers727505365
MSV3drs727505365
GWAS Ctlgrs727505365
Max Magnitude0
ClinVar
Risk rs727505365(;)
Alt rs727505365(;)
Reference rs727505365(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.2581076delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000156938.4,