rs1537514
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1537514(C;G) |
Make rs1537514(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 11788011 |
Gene | C1orf167, MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs1537514 |
dbSNP (classic) | rs1537514 |
ClinGen | rs1537514 |
ebi | rs1537514 |
HLI | rs1537514 |
Exac | rs1537514 |
Gnomad | rs1537514 |
Varsome | rs1537514 |
LitVar | rs1537514 |
Map | rs1537514 |
PheGenI | rs1537514 |
Biobank | rs1537514 |
1000 genomes | rs1537514 |
hgdp | rs1537514 |
ensembl | rs1537514 |
geneview | rs1537514 |
scholar | rs1537514 |
rs1537514 | |
pharmgkb | rs1537514 |
gwascentral | rs1537514 |
openSNP | rs1537514 |
23andMe | rs1537514 |
SNPshot | rs1537514 |
SNPdbe | rs1537514 |
MSV3d | rs1537514 |
GWAS Ctlg | rs1537514 |
GMAF | 0.08999 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
[PMID 21765920] Bioinformatic and Genetic Association Analysis of MicroRNA Target Sites in One-Carbon Metabolism Genes
[PMID 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
ClinVar | |
---|---|
Risk | rs1537514(G;G) |
Alt | rs1537514(G;G) |
Reference | Rs1537514(C;C) |
Significance | Probable-non-pathogenic |
Disease | Neural tube defects |
Variation | info |
Gene | MTHFR C1orf167 |
CLNDBN | Neural tube defects, folate-sensitive |
Reversed | 1 |
HGVS | NC_000001.10:g.11848068G>C |
CLNSRC | |
CLNACC | RCV000354545.1, |