rs780014899
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs780014899(-;-) |
Make rs780014899(-;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 11794540 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs780014899 |
dbSNP (classic) | rs780014899 |
ClinGen | rs780014899 |
ebi | rs780014899 |
HLI | rs780014899 |
Exac | rs780014899 |
Gnomad | rs780014899 |
Varsome | rs780014899 |
LitVar | rs780014899 |
Map | rs780014899 |
PheGenI | rs780014899 |
Biobank | rs780014899 |
1000 genomes | rs780014899 |
hgdp | rs780014899 |
ensembl | rs780014899 |
geneview | rs780014899 |
scholar | rs780014899 |
rs780014899 | |
pharmgkb | rs780014899 |
gwascentral | rs780014899 |
openSNP | rs780014899 |
23andMe | rs780014899 |
SNPshot | rs780014899 |
SNPdbe | rs780014899 |
MSV3d | rs780014899 |
GWAS Ctlg | rs780014899 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780014899(-;-) |
Alt | rs780014899(-;-) |
Reference | Rs780014899(T;T) |
Significance | Pathogenic |
Disease | Homocysteinemia due to MTHFR deficiency |
Variation | info |
Gene | MTHFR |
CLNDBN | Homocysteinemia due to MTHFR deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.11854597delT |
CLNSRC | |
CLNACC | RCV000167611.1, |