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rs149119723

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs149119723(A;A)
Make rs149119723(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position43063943
GeneCBS
is asnp
is mentioned by
dbSNPrs149119723
ebirs149119723
HLIrs149119723
Exacrs149119723
Varsomers149119723
Maprs149119723
PheGenIrs149119723
hapmaprs149119723
1000 genomesrs149119723
hgdprs149119723
ensemblrs149119723
gopubmedrs149119723
geneviewrs149119723
scholarrs149119723
googlers149119723
pharmgkbrs149119723
gwascentralrs149119723
openSNPrs149119723
23andMers149119723
23andMe allrs149119723
SNP Nexus

SNPshotrs149119723
SNPdbers149119723
MSV3drs149119723
GWAS Ctlgrs149119723
Max Magnitude0
ClinVar
Risk rs149119723(A;A)
Alt rs149119723(A;A)
Reference rs149119723(G;G)
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.44484053G>A
CLNSRC
CLNACC RCV000180461.1, RCV000200469.1,