Have questions? Visit https://www.reddit.com/r/SNPedia

rs727502782

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502782(-;-)
Make rs727502782(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position76163365
GeneSCARB2
is asnp
is mentioned by
dbSNPrs727502782
ebirs727502782
HLIrs727502782
Exacrs727502782
Varsomers727502782
Maprs727502782
PheGenIrs727502782
hapmaprs727502782
1000 genomesrs727502782
hgdprs727502782
ensemblrs727502782
gopubmedrs727502782
geneviewrs727502782
scholarrs727502782
googlers727502782
pharmgkbrs727502782
gwascentralrs727502782
openSNPrs727502782
23andMers727502782
23andMe allrs727502782
SNP Nexus

SNPshotrs727502782
SNPdbers727502782
MSV3drs727502782
GWAS Ctlgrs727502782
Max Magnitude0
ClinVar
Risk rs727502782(;)
Alt rs727502782(;)
Reference rs727502782(G;G)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene SCARB2
CLNDBN Epilepsy, progressive myoclonic 4, with or without renal failure
Reversed 1
HGVS NC_000004.11:g.77084518delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000023184.5,