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rs771298943

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs771298943(A;A)
Make rs771298943(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position43062311
GeneCBS
is asnp
is mentioned by
dbSNPrs771298943
ebirs771298943
HLIrs771298943
Exacrs771298943
Varsomers771298943
Maprs771298943
PheGenIrs771298943
hapmaprs771298943
1000 genomesrs771298943
hgdprs771298943
ensemblrs771298943
gopubmedrs771298943
geneviewrs771298943
scholarrs771298943
googlers771298943
pharmgkbrs771298943
gwascentralrs771298943
openSNPrs771298943
23andMers771298943
23andMe allrs771298943
SNP Nexus

SNPshotrs771298943
SNPdbers771298943
MSV3drs771298943
GWAS Ctlgrs771298943
Max Magnitude0
ClinVar
Risk rs771298943(A,T;A,T)
Alt rs771298943(A,T;A,T)
Reference rs771298943(C;C)
Significance Pathogenic
Disease Homocystinuria due to CBS deficiency not provided
Variation info
Gene CBS
CLNDBN Homocystinuria due to CBS deficiency not provided
Reversed 0
HGVS NC_000021.8:g.44482421C>T
CLNSRC
CLNACC RCV000169132.1, RCV000197584.2,