rs1021737

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(T;T)	3	significantly higher plasma total homocysteine concentration

Make rs1021737(G;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

70439117

Gene

CTH

is a	snp
is	mentioned by
dbSNP	rs1021737
dbSNP (classic)	rs1021737
ClinGen	rs1021737
ebi	rs1021737
HLI	rs1021737
Exac	rs1021737
Gnomad	rs1021737
Varsome	rs1021737
LitVar	rs1021737
Map	rs1021737
PheGenI	rs1021737
Biobank	rs1021737
1000 genomes	rs1021737
hgdp	rs1021737
ensembl	rs1021737
geneview	rs1021737
scholar	rs1021737
google	rs1021737
pharmgkb	rs1021737
gwascentral	rs1021737
openSNP	rs1021737
23andMe	rs1021737
SNPshot	rs1021737
SNPdbe	rs1021737
MSV3d	rs1021737
GWAS Ctlg	rs1021737

Merged from

Rs17407754

GMAF

0.2259

Max Magnitude

3

?	(G;G) (G;T) (T;T)	28

OMIM	607657
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs1021737(T;T)
Alt	Rs1021737(T;T)
Reference	Rs1021737(G;G)
Significance	Other
Disease	Homocysteine Cystathioninuria
Variation	info
Gene	CTH
CLNDBN	Homocysteine, total plasma, elevated Cystathioninuria
Reversed	0
HGVS	NC_000001.10:g.70904800G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003075.4, RCV000331590.1,

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

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

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

[PMID 29694444] One-carbon metabolism biomarkers and genetic variants in relation to colorectal cancer risk by KRAS and BRAF mutation status.