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rs727502772

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502772(G;T)
Make rs727502772(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position76166249
GeneSCARB2
is asnp
is mentioned by
dbSNPrs727502772
ebirs727502772
HLIrs727502772
Exacrs727502772
Varsomers727502772
Maprs727502772
PheGenIrs727502772
hapmaprs727502772
1000 genomesrs727502772
hgdprs727502772
ensemblrs727502772
gopubmedrs727502772
geneviewrs727502772
scholarrs727502772
googlers727502772
pharmgkbrs727502772
gwascentralrs727502772
openSNPrs727502772
23andMers727502772
23andMe allrs727502772
SNP Nexus

SNPshotrs727502772
SNPdbers727502772
MSV3drs727502772
GWAS Ctlgrs727502772
Max Magnitude0
ClinVar
Risk rs727502772(T;T)
Alt rs727502772(T;T)
Reference rs727502772(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.77087402C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007801.4,