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rs117687681

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs117687681(A;A)
Make rs117687681(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position43060481
GeneCBS
is asnp
is mentioned by
dbSNPrs117687681
ebirs117687681
HLIrs117687681
Exacrs117687681
Varsomers117687681
Maprs117687681
PheGenIrs117687681
hapmaprs117687681
1000 genomesrs117687681
hgdprs117687681
ensemblrs117687681
gopubmedrs117687681
geneviewrs117687681
scholarrs117687681
googlers117687681
pharmgkbrs117687681
gwascentralrs117687681
openSNPrs117687681
23andMers117687681
23andMe allrs117687681
SNP Nexus

SNPshotrs117687681
SNPdbers117687681
MSV3drs117687681
GWAS Ctlgrs117687681
Max Magnitude0

minor allele should be reclassified as benign according to [PMID 26990548OA-icon.png]

ClinVar
Risk rs117687681(A;A)
Alt rs117687681(A;A)
Reference rs117687681(G;G)
Significance Pathogenic
Disease not provided Homocystinuria due to CBS deficiency
Variation info
Gene CBS
CLNDBN not provided Homocystinuria due to CBS deficiency
Reversed 0
HGVS NC_000021.8:g.44480591G>A
CLNSRC
CLNACC RCV000199827.2, RCV000231839.1,