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rs764160782

From SNPedia

Orientationplus
Geno Mag Summary
(AGAAAGAG;AGAAAGAG) 0 common in clinvar
Make rs764160782(-;-)
Make rs764160782(-;AGAAAGAG)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position43065279
GeneCBS
is asnp
is mentioned by
dbSNPrs764160782
ebirs764160782
HLIrs764160782
Exacrs764160782
Varsomers764160782
Maprs764160782
PheGenIrs764160782
hapmaprs764160782
1000 genomesrs764160782
hgdprs764160782
ensemblrs764160782
gopubmedrs764160782
geneviewrs764160782
scholarrs764160782
googlers764160782
pharmgkbrs764160782
gwascentralrs764160782
openSNPrs764160782
23andMers764160782
23andMe allrs764160782
SNP Nexus

SNPshotrs764160782
SNPdbers764160782
MSV3drs764160782
GWAS Ctlgrs764160782
Max Magnitude0
ClinVar
Risk rs764160782(;)
Alt rs764160782(;)
Reference rs764160782(AGAAAGAG;AGAAAGAG)
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.44485389_44485396delAGAAAGAG
CLNSRC
CLNACC RCV000169271.1,