rs763539350
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs763539350(C;C) |
Make rs763539350(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 11802915 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs763539350 |
dbSNP (classic) | rs763539350 |
ClinGen | rs763539350 |
ebi | rs763539350 |
HLI | rs763539350 |
Exac | rs763539350 |
Gnomad | rs763539350 |
Varsome | rs763539350 |
LitVar | rs763539350 |
Map | rs763539350 |
PheGenI | rs763539350 |
Biobank | rs763539350 |
1000 genomes | rs763539350 |
hgdp | rs763539350 |
ensembl | rs763539350 |
geneview | rs763539350 |
scholar | rs763539350 |
rs763539350 | |
pharmgkb | rs763539350 |
gwascentral | rs763539350 |
openSNP | rs763539350 |
23andMe | rs763539350 |
SNPshot | rs763539350 |
SNPdbe | rs763539350 |
MSV3d | rs763539350 |
GWAS Ctlg | rs763539350 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763539350(A;A) rs763539350(C;C) |
Alt | rs763539350(A;A) rs763539350(C;C) |
Reference | Rs763539350(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.11862972G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000167589.1, |