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rs730880324

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730880324(-;-)
Make rs730880324(-;A)
Make rs730880324(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position2543754
GeneBRAT1
is asnp
is mentioned by
dbSNPrs730880324
ebirs730880324
HLIrs730880324
Exacrs730880324
Varsomers730880324
Maprs730880324
PheGenIrs730880324
hapmaprs730880324
1000 genomesrs730880324
hgdprs730880324
ensemblrs730880324
gopubmedrs730880324
geneviewrs730880324
scholarrs730880324
googlers730880324
pharmgkbrs730880324
gwascentralrs730880324
openSNPrs730880324
23andMers730880324
23andMe allrs730880324
SNP Nexus

SNPshotrs730880324
SNPdbers730880324
MSV3drs730880324
GWAS Ctlgrs730880324
Max Magnitude0
ClinVar
Risk rs730880324(A;A)
Alt rs730880324(A;A)
Reference rs730880324(;)
Significance Pathogenic
Disease Rigidity and multifocal seizure syndrome Inborn genetic diseases
Variation info
Gene BRAT1
CLNDBN Rigidity and multifocal seizure syndrome, lethal neonatal Inborn genetic diseases
Reversed 1
HGVS NC_000007.13:g.2583389dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000024198.4, RCV000210714.1,