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rs386833439

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833439(A;A)
Make rs386833439(A;C)
ReferenceGRCh38 38.1/141
Chromosome21
Position43774701
GeneCSTB
is asnp
is mentioned by
dbSNPrs386833439
ebirs386833439
HLIrs386833439
Exacrs386833439
Varsomers386833439
Maprs386833439
PheGenIrs386833439
hapmaprs386833439
1000 genomesrs386833439
hgdprs386833439
ensemblrs386833439
gopubmedrs386833439
geneviewrs386833439
scholarrs386833439
googlers386833439
pharmgkbrs386833439
gwascentralrs386833439
openSNPrs386833439
23andMers386833439
23andMe allrs386833439
SNP Nexus

SNPshotrs386833439
SNPdbers386833439
MSV3drs386833439
GWAS Ctlgrs386833439
Max Magnitude0
ClinVar
Risk rs386833439(A;A)
Alt rs386833439(A;A)
Reference rs386833439(C;C)
Significance Other
Disease Unverricht-Lundborg syndrome
Variation info
Gene CSTB
CLNDBN Unverricht-Lundborg syndrome
Reversed 1
HGVS NC_000021.8:g.45194582G>T
CLNSRC ClinVar
CLNACC RCV000049366.1,