rs397507507
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397507507(A;A) |
Make rs397507507(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 112450358 |
Gene | PTPN11 |
is a | snp |
is | mentioned by |
dbSNP | rs397507507 |
dbSNP (classic) | rs397507507 |
ClinGen | rs397507507 |
ebi | rs397507507 |
HLI | rs397507507 |
Exac | rs397507507 |
Gnomad | rs397507507 |
Varsome | rs397507507 |
LitVar | rs397507507 |
Map | rs397507507 |
PheGenI | rs397507507 |
Biobank | rs397507507 |
1000 genomes | rs397507507 |
hgdp | rs397507507 |
ensembl | rs397507507 |
geneview | rs397507507 |
scholar | rs397507507 |
rs397507507 | |
pharmgkb | rs397507507 |
gwascentral | rs397507507 |
openSNP | rs397507507 |
23andMe | rs397507507 |
SNPshot | rs397507507 |
SNPdbe | rs397507507 |
MSV3d | rs397507507 |
GWAS Ctlg | rs397507507 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397507507(A;A) rs397507507(C;C) rs397507507(T;T) |
Alt | rs397507507(A;A) rs397507507(C;C) rs397507507(T;T) |
Reference | Rs397507507(G;G) |
Significance | Other |
Disease | Noonan syndrome not provided |
Variation | info |
Gene | PTPN11 |
CLNDBN | Noonan syndrome not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.112888162G>A; NC_000012.11:g.112888162G>C; NC_000012.11:g.112888162G>T |
CLNSRC | HGMD |
CLNACC | RCV000151684.1, RCV000157700.2, RCV000413720.1, RCV000034327.6, |