rs397507550
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 7 | Noonan syndrome |
(G;G) | 0 | common in clinvar |
Make rs397507550(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 112489106 |
Gene | PTPN11 |
is a | snp |
is | mentioned by |
dbSNP | rs397507550 |
dbSNP (classic) | rs397507550 |
ClinGen | rs397507550 |
ebi | rs397507550 |
HLI | rs397507550 |
Exac | rs397507550 |
Gnomad | rs397507550 |
Varsome | rs397507550 |
LitVar | rs397507550 |
Map | rs397507550 |
PheGenI | rs397507550 |
Biobank | rs397507550 |
1000 genomes | rs397507550 |
hgdp | rs397507550 |
ensembl | rs397507550 |
geneview | rs397507550 |
scholar | rs397507550 |
rs397507550 | |
pharmgkb | rs397507550 |
gwascentral | rs397507550 |
openSNP | rs397507550 |
23andMe | rs397507550 |
SNPshot | rs397507550 |
SNPdbe | rs397507550 |
MSV3d | rs397507550 |
GWAS Ctlg | rs397507550 |
Max Magnitude | 7 |
aka c.1530G>C (p.Gln510His)
ClinVar | |
---|---|
Risk | rs397507550(C;C) |
Alt | rs397507550(C;C) |
Reference | Rs397507550(G;G) |
Significance | Other |
Disease | not provided LEOPARD syndrome 1 |
Variation | info |
Gene | PTPN11 |
CLNDBN | not provided LEOPARD syndrome 1 |
Reversed | 0 |
HGVS | NC_000012.11:g.112926910G>C |
CLNSRC | HGMD |
CLNACC | RCV000077854.5, RCV000335307.1, |