rs201247699
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201247699(C;C) |
Make rs201247699(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 112486476 |
Gene | PTPN11 |
is a | snp |
is | mentioned by |
dbSNP | rs201247699 |
dbSNP (classic) | rs201247699 |
ClinGen | rs201247699 |
ebi | rs201247699 |
HLI | rs201247699 |
Exac | rs201247699 |
Gnomad | rs201247699 |
Varsome | rs201247699 |
LitVar | rs201247699 |
Map | rs201247699 |
PheGenI | rs201247699 |
Biobank | rs201247699 |
1000 genomes | rs201247699 |
hgdp | rs201247699 |
ensembl | rs201247699 |
geneview | rs201247699 |
scholar | rs201247699 |
rs201247699 | |
pharmgkb | rs201247699 |
gwascentral | rs201247699 |
openSNP | rs201247699 |
23andMe | rs201247699 |
SNPshot | rs201247699 |
SNPdbe | rs201247699 |
MSV3d | rs201247699 |
GWAS Ctlg | rs201247699 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201247699(C;C) |
Alt | rs201247699(C;C) |
Reference | Rs201247699(G;G) |
Significance | Pathogenic |
Disease | not specified |
Variation | info |
Gene | PTPN11 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000012.11:g.112924280G>C |
CLNSRC | ClinVar |
CLNACC | RCV000037608.3, |