rs1057517917
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs1057517917(AT;GC) |
Make rs1057517917(GC;GC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 112450368 |
Gene | PTPN11 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517917 |
dbSNP (classic) | rs1057517917 |
ClinGen | rs1057517917 |
ebi | rs1057517917 |
HLI | rs1057517917 |
Exac | rs1057517917 |
Gnomad | rs1057517917 |
Varsome | rs1057517917 |
LitVar | rs1057517917 |
Map | rs1057517917 |
PheGenI | rs1057517917 |
Biobank | rs1057517917 |
1000 genomes | rs1057517917 |
hgdp | rs1057517917 |
ensembl | rs1057517917 |
geneview | rs1057517917 |
scholar | rs1057517917 |
rs1057517917 | |
pharmgkb | rs1057517917 |
gwascentral | rs1057517917 |
openSNP | rs1057517917 |
23andMe | rs1057517917 |
SNPshot | rs1057517917 |
SNPdbe | rs1057517917 |
MSV3d | rs1057517917 |
GWAS Ctlg | rs1057517917 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517917(GC;GC) |
Alt | rs1057517917(GC;GC) |
Reference | Rs1057517917(AT;AT) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PTPN11 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.112888172_112888173delATinsGC |
CLNSRC | |
CLNACC | RCV000413931.1, |