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rs375846341

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs375846341(G;G)
Make rs375846341(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position43058970
GeneCBS
is asnp
is mentioned by
dbSNPrs375846341
ebirs375846341
HLIrs375846341
Exacrs375846341
Varsomers375846341
Maprs375846341
PheGenIrs375846341
hapmaprs375846341
1000 genomesrs375846341
hgdprs375846341
ensemblrs375846341
gopubmedrs375846341
geneviewrs375846341
scholarrs375846341
googlers375846341
pharmgkbrs375846341
gwascentralrs375846341
openSNPrs375846341
23andMers375846341
23andMe allrs375846341
SNP Nexus

SNPshotrs375846341
SNPdbers375846341
MSV3drs375846341
GWAS Ctlgrs375846341
Max Magnitude0
ClinVar
Risk rs375846341(G;G)
Alt rs375846341(G;G)
Reference rs375846341(T;T)
Significance Pathogenic
Disease Homocystinuria Homocystinuria due to CBS deficiency not provided
Variation info
Gene CBS
CLNDBN Homocystinuria, pyridoxine-responsive Homocystinuria due to CBS deficiency not provided
Reversed 0
HGVS NC_000021.8:g.44479080T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000151.2, RCV000174658.1, RCV000198380.1,