rs138189536
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138189536(A;A) |
Make rs138189536(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 11802981 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs138189536 |
dbSNP (classic) | rs138189536 |
ClinGen | rs138189536 |
ebi | rs138189536 |
HLI | rs138189536 |
Exac | rs138189536 |
Gnomad | rs138189536 |
Varsome | rs138189536 |
LitVar | rs138189536 |
Map | rs138189536 |
PheGenI | rs138189536 |
Biobank | rs138189536 |
1000 genomes | rs138189536 |
hgdp | rs138189536 |
ensembl | rs138189536 |
geneview | rs138189536 |
scholar | rs138189536 |
rs138189536 | |
pharmgkb | rs138189536 |
gwascentral | rs138189536 |
openSNP | rs138189536 |
23andMe | rs138189536 |
SNPshot | rs138189536 |
SNPdbe | rs138189536 |
MSV3d | rs138189536 |
GWAS Ctlg | rs138189536 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138189536(A;A) |
Alt | rs138189536(A;A) |
Reference | Rs138189536(G;G) |
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.11863038G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000167586.1, |