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rs727505362

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727505362(-;-)
Make rs727505362(-;GAGAAGAT)
Make rs727505362(GAGAAGAT;GAGAAGAT)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position2543939
GeneBRAT1
is asnp
is mentioned by
dbSNPrs727505362
ebirs727505362
HLIrs727505362
Exacrs727505362
Varsomers727505362
Maprs727505362
PheGenIrs727505362
hapmaprs727505362
1000 genomesrs727505362
hgdprs727505362
ensemblrs727505362
gopubmedrs727505362
geneviewrs727505362
scholarrs727505362
googlers727505362
pharmgkbrs727505362
gwascentralrs727505362
openSNPrs727505362
23andMers727505362
23andMe allrs727505362
SNP Nexus

SNPshotrs727505362
SNPdbers727505362
MSV3drs727505362
GWAS Ctlgrs727505362
Max Magnitude0
ClinVar
Risk rs727505362(ATCTTCTCC,GAGAAGATC;ATCTTCTCC,GAGAAGATC)
Alt rs727505362(ATCTTCTCC,GAGAAGATC;ATCTTCTCC,GAGAAGATC)
Reference rs727505362(C;C)
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.2583573_2583574insATCTTCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000156935.4,