rs387907158
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387907158(A;T) |
Make rs387907158(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 112450475 |
Gene | PTPN11 |
is a | snp |
is | mentioned by |
dbSNP | rs387907158 |
dbSNP (classic) | rs387907158 |
ClinGen | rs387907158 |
ebi | rs387907158 |
HLI | rs387907158 |
Exac | rs387907158 |
Gnomad | rs387907158 |
Varsome | rs387907158 |
LitVar | rs387907158 |
Map | rs387907158 |
PheGenI | rs387907158 |
Biobank | rs387907158 |
1000 genomes | rs387907158 |
hgdp | rs387907158 |
ensembl | rs387907158 |
geneview | rs387907158 |
scholar | rs387907158 |
rs387907158 | |
pharmgkb | rs387907158 |
gwascentral | rs387907158 |
openSNP | rs387907158 |
23andMe | rs387907158 |
SNPshot | rs387907158 |
SNPdbe | rs387907158 |
MSV3d | rs387907158 |
GWAS Ctlg | rs387907158 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907158(T;T) |
Alt | rs387907158(T;T) |
Reference | Rs387907158(A;A) |
Significance | Pathogenic |
Disease | Metachondromatosis |
Variation | info |
Gene | PTPN11 |
CLNDBN | Metachondromatosis |
Reversed | 0 |
HGVS | NC_000012.11:g.112888279A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024261.24, |