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rs1021737

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(T;T) 3 significantly higher plasma total homocysteine concentration
Make rs1021737(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position70439117
GeneCTH
is asnp
is mentioned by
dbSNPrs1021737
ebirs1021737
HLIrs1021737
Exacrs1021737
Varsomers1021737
Maprs1021737
PheGenIrs1021737
hapmaprs1021737
1000 genomesrs1021737
hgdprs1021737
ensemblrs1021737
gopubmedrs1021737
geneviewrs1021737
scholarrs1021737
googlers1021737
pharmgkbrs1021737
gwascentralrs1021737
openSNPrs1021737
23andMers1021737
23andMe allrs1021737
SNP Nexus

SNPshotrs1021737
SNPdbers1021737
MSV3drs1021737
GWAS Ctlgrs1021737
Merged fromRs17407754
GMAF0.2259
Max Magnitude3
? (G;G) (G;T) (T;T) 28
OMIM607657
Desc
Variant0005
Relatedalso


ClinVar
Risk rs1021737(T;T)
Alt rs1021737(T;T)
Reference rs1021737(G;G)
Significance Other
Disease Homocysteine
Variation info
Gene CTH
CLNDBN Homocysteine, total plasma, elevated
Reversed 0
HGVS NC_000001.10:g.70904800G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003075.3,



[PMID 18701025] Relationship between cystathionine gamma-lyase gene polymorphism and essential hypertension in Northern Chinese Han population.


[PMID 19048631OA-icon.png] Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.


GET Evidence
CTH-S403I
aa_change Ser403Ile
aa_change_short S403I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.237312
summary



[PMID 25807836] The importance of rs1021737 and rs482843 polymorphisms of cystathionine gamma-lyase in the etiology of preeclampsia in the Caucasian population