rs267606989
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267606989(C;T) |
Make rs267606989(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 112453274 |
Gene | PTPN11 |
is a | snp |
is | mentioned by |
dbSNP | rs267606989 |
dbSNP (classic) | rs267606989 |
ClinGen | rs267606989 |
ebi | rs267606989 |
HLI | rs267606989 |
Exac | rs267606989 |
Gnomad | rs267606989 |
Varsome | rs267606989 |
LitVar | rs267606989 |
Map | rs267606989 |
PheGenI | rs267606989 |
Biobank | rs267606989 |
1000 genomes | rs267606989 |
hgdp | rs267606989 |
ensembl | rs267606989 |
geneview | rs267606989 |
scholar | rs267606989 |
rs267606989 | |
pharmgkb | rs267606989 |
gwascentral | rs267606989 |
openSNP | rs267606989 |
23andMe | rs267606989 |
SNPshot | rs267606989 |
SNPdbe | rs267606989 |
MSV3d | rs267606989 |
GWAS Ctlg | rs267606989 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606989(T;T) |
Alt | rs267606989(T;T) |
Reference | Rs267606989(C;C) |
Significance | Pathogenic |
Disease | Metachondromatosis |
Variation | info |
Gene | PTPN11 |
CLNDBN | Metachondromatosis |
Reversed | 0 |
HGVS | NC_000012.11:g.112891078C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014276.26, |