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rs760214620

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs760214620(C;T)
Make rs760214620(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position43066348
GeneCBS
is asnp
is mentioned by
dbSNPrs760214620
ebirs760214620
HLIrs760214620
Exacrs760214620
Varsomers760214620
Maprs760214620
PheGenIrs760214620
hapmaprs760214620
1000 genomesrs760214620
hgdprs760214620
ensemblrs760214620
gopubmedrs760214620
geneviewrs760214620
scholarrs760214620
googlers760214620
pharmgkbrs760214620
gwascentralrs760214620
openSNPrs760214620
23andMers760214620
23andMe allrs760214620
SNP Nexus

SNPshotrs760214620
SNPdbers760214620
MSV3drs760214620
GWAS Ctlgrs760214620
Max Magnitude0
ClinVar
Risk rs760214620(T;T)
Alt rs760214620(T;T)
Reference rs760214620(C;C)
Significance Probable-Pathogenic
Disease Homocystinuria due to CBS deficiency
Variation info
Gene CBS
CLNDBN Homocystinuria due to CBS deficiency
Reversed 0
HGVS NC_000021.8:g.44486458C>T
CLNSRC
CLNACC RCV000169116.1,