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rs74315442

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315442(C;T)
Make rs74315442(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position43774297
GeneCSTB
is asnp
is mentioned by
dbSNPrs74315442
ebirs74315442
HLIrs74315442
Exacrs74315442
Varsomers74315442
Maprs74315442
PheGenIrs74315442
hapmaprs74315442
1000 genomesrs74315442
hgdprs74315442
ensemblrs74315442
gopubmedrs74315442
geneviewrs74315442
scholarrs74315442
googlers74315442
pharmgkbrs74315442
gwascentralrs74315442
openSNPrs74315442
23andMers74315442
23andMe allrs74315442
SNP Nexus

SNPshotrs74315442
SNPdbers74315442
MSV3drs74315442
GWAS Ctlgrs74315442
Max Magnitude0
OMIM601145
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315442(T;T)
Alt rs74315442(T;T)
Reference rs74315442(C;C)
Significance Pathogenic
Disease Unverricht-Lundborg syndrome not provided
Variation info
Gene CSTB
CLNDBN Unverricht-Lundborg syndrome not provided
Reversed 1
HGVS NC_000021.8:g.45194178G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008904.4, RCV000187286.1,