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rs727502781

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727502781(A;C)
Make rs727502781(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position76168478
GeneSCARB2
is asnp
is mentioned by
dbSNPrs727502781
ebirs727502781
HLIrs727502781
Exacrs727502781
Varsomers727502781
Maprs727502781
PheGenIrs727502781
hapmaprs727502781
1000 genomesrs727502781
hgdprs727502781
ensemblrs727502781
gopubmedrs727502781
geneviewrs727502781
scholarrs727502781
googlers727502781
pharmgkbrs727502781
gwascentralrs727502781
openSNPrs727502781
23andMers727502781
23andMe allrs727502781
SNP Nexus

SNPshotrs727502781
SNPdbers727502781
MSV3drs727502781
GWAS Ctlgrs727502781
Max Magnitude0
ClinVar
Risk rs727502781(C;C)
Alt rs727502781(C;C)
Reference rs727502781(A;A)
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.77089631T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023183.3,