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rs727502783

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs727502783(-;-)
Make rs727502783(-;T)
Make rs727502783(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position76168400
GeneSCARB2
is asnp
is mentioned by
dbSNPrs727502783
ebirs727502783
HLIrs727502783
Exacrs727502783
Varsomers727502783
Maprs727502783
PheGenIrs727502783
hapmaprs727502783
1000 genomesrs727502783
hgdprs727502783
ensemblrs727502783
gopubmedrs727502783
geneviewrs727502783
scholarrs727502783
googlers727502783
pharmgkbrs727502783
gwascentralrs727502783
openSNPrs727502783
23andMers727502783
23andMe allrs727502783
SNP Nexus

SNPshotrs727502783
SNPdbers727502783
MSV3drs727502783
GWAS Ctlgrs727502783
Max Magnitude0
ClinVar
Risk rs727502783(T;T)
Alt rs727502783(T;T)
Reference rs727502783(;)
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.77089554dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023185.4,