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rs312262708

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262708(A;A)
Make rs312262708(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position43774677
GeneCSTB
is asnp
is mentioned by
dbSNPrs312262708
ebirs312262708
HLIrs312262708
Exacrs312262708
Varsomers312262708
Maprs312262708
PheGenIrs312262708
hapmaprs312262708
1000 genomesrs312262708
hgdprs312262708
ensemblrs312262708
gopubmedrs312262708
geneviewrs312262708
scholarrs312262708
googlers312262708
pharmgkbrs312262708
gwascentralrs312262708
openSNPrs312262708
23andMers312262708
23andMe allrs312262708
SNP Nexus

SNPshotrs312262708
SNPdbers312262708
MSV3drs312262708
GWAS Ctlgrs312262708
Max Magnitude0
ClinVar
Risk rs312262708(A;A)
Alt rs312262708(A;A)
Reference rs312262708(G;G)
Significance Pathogenic
Disease Unverricht-Lundborg syndrome
Variation info
Gene CSTB
CLNDBN Unverricht-Lundborg syndrome
Reversed 1
HGVS NC_000021.8:g.45194558C>T
CLNSRC
CLNACC RCV000202469.1,