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rs545986367

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs545986367(A;A)
Make rs545986367(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position43774690
GeneCSTB
is asnp
is mentioned by
dbSNPrs545986367
ebirs545986367
HLIrs545986367
Exacrs545986367
Varsomers545986367
Maprs545986367
PheGenIrs545986367
hapmaprs545986367
1000 genomesrs545986367
hgdprs545986367
ensemblrs545986367
gopubmedrs545986367
geneviewrs545986367
scholarrs545986367
googlers545986367
pharmgkbrs545986367
gwascentralrs545986367
openSNPrs545986367
23andMers545986367
23andMe allrs545986367
SNP Nexus

SNPshotrs545986367
SNPdbers545986367
MSV3drs545986367
GWAS Ctlgrs545986367
Max Magnitude0
ClinVar
Risk rs545986367(A;A)
Alt rs545986367(A;A)
Reference rs545986367(G;G)
Significance Pathogenic
Disease not provided Unverricht-Lundborg syndrome
Variation info
Gene CSTB
CLNDBN not provided Unverricht-Lundborg syndrome
Reversed 0
HGVS NC_000021.8:g.45194571G>A
CLNSRC
CLNACC RCV000187279.2, RCV000202565.1,