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rs74315443

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315443(C;C)
Make rs74315443(C;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position43776260
GeneCSTB
is asnp
is mentioned by
dbSNPrs74315443
ebirs74315443
HLIrs74315443
Exacrs74315443
Varsomers74315443
Maprs74315443
PheGenIrs74315443
hapmaprs74315443
1000 genomesrs74315443
hgdprs74315443
ensemblrs74315443
gopubmedrs74315443
geneviewrs74315443
scholarrs74315443
googlers74315443
pharmgkbrs74315443
gwascentralrs74315443
openSNPrs74315443
23andMers74315443
23andMe allrs74315443
SNP Nexus

SNPshotrs74315443
SNPdbers74315443
MSV3drs74315443
GWAS Ctlgrs74315443
Max Magnitude0
OMIM601145
Desc
Variant0004
Relatedalso
ClinVar
Risk rs74315443(C;C)
Alt rs74315443(C;C)
Reference rs74315443(G;G)
Significance Pathogenic
Disease Unverricht-Lundborg syndrome
Variation info
Gene CSTB
CLNDBN Unverricht-Lundborg syndrome
Reversed 1
HGVS NC_000021.8:g.45196141C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008905.2,