rs786204027
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs786204027(C;C) |
Make rs786204027(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 11793905 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs786204027 |
dbSNP (classic) | rs786204027 |
ClinGen | rs786204027 |
ebi | rs786204027 |
HLI | rs786204027 |
Exac | rs786204027 |
Gnomad | rs786204027 |
Varsome | rs786204027 |
LitVar | rs786204027 |
Map | rs786204027 |
PheGenI | rs786204027 |
Biobank | rs786204027 |
1000 genomes | rs786204027 |
hgdp | rs786204027 |
ensembl | rs786204027 |
geneview | rs786204027 |
scholar | rs786204027 |
rs786204027 | |
pharmgkb | rs786204027 |
gwascentral | rs786204027 |
openSNP | rs786204027 |
23andMe | rs786204027 |
SNPshot | rs786204027 |
SNPdbe | rs786204027 |
MSV3d | rs786204027 |
GWAS Ctlg | rs786204027 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204027(C;C) |
Alt | rs786204027(C;C) |
Reference | Rs786204027(T;T) |
Significance | Pathogenic |
Disease | Homocysteinemia due to MTHFR deficiency |
Variation | info |
Gene | MTHFR |
CLNDBN | Homocysteinemia due to MTHFR deficiency |
Reversed | 1 |
HGVS | NC_000001.10:g.11853962A>G |
CLNSRC | |
CLNACC | RCV000167615.1, |