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rs727505364

From SNPedia

Orientationminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs727505364(-;-)
Make rs727505364(-;TC)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position2542172
GeneBRAT1
is asnp
is mentioned by
dbSNPrs727505364
ebirs727505364
HLIrs727505364
Exacrs727505364
Varsomers727505364
Maprs727505364
PheGenIrs727505364
hapmaprs727505364
1000 genomesrs727505364
hgdprs727505364
ensemblrs727505364
gopubmedrs727505364
geneviewrs727505364
scholarrs727505364
googlers727505364
pharmgkbrs727505364
gwascentralrs727505364
openSNPrs727505364
23andMers727505364
23andMe allrs727505364
SNP Nexus

SNPshotrs727505364
SNPdbers727505364
MSV3drs727505364
GWAS Ctlgrs727505364
Max Magnitude0
ClinVar
Risk rs727505364(;)
Alt rs727505364(;)
Reference rs727505364(TC;TC)
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.2581806_2581807delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000156937.4,