rs144637717
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs144637717(C;C) |
Make rs144637717(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 72195749 |
Gene | FOLR1 |
is a | snp |
is | mentioned by |
dbSNP | rs144637717 |
dbSNP (classic) | rs144637717 |
ClinGen | rs144637717 |
ebi | rs144637717 |
HLI | rs144637717 |
Exac | rs144637717 |
Gnomad | rs144637717 |
Varsome | rs144637717 |
LitVar | rs144637717 |
Map | rs144637717 |
PheGenI | rs144637717 |
Biobank | rs144637717 |
1000 genomes | rs144637717 |
hgdp | rs144637717 |
ensembl | rs144637717 |
geneview | rs144637717 |
scholar | rs144637717 |
rs144637717 | |
pharmgkb | rs144637717 |
gwascentral | rs144637717 |
openSNP | rs144637717 |
23andMe | rs144637717 |
SNPshot | rs144637717 |
SNPdbe | rs144637717 |
MSV3d | rs144637717 |
GWAS Ctlg | rs144637717 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144637717(C;C) |
Alt | rs144637717(C;C) |
Reference | Rs144637717(T;T) |
Significance | Pathogenic |
Disease | not provided not specified Cerebral folate deficiency |
Variation | info |
Gene | FOLR1 |
CLNDBN | not provided not specified Cerebral folate deficiency |
Reversed | 0 |
HGVS | NC_000011.9:g.71906793T>C |
CLNSRC | HGMD |
CLNACC | RCV000081793.6, RCV000235166.2, RCV000356764.1, |