rs121918457
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 7 | Noonan syndrome |
Make rs121918457(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 112488466 |
Gene | PTPN11 |
is a | snp |
is | mentioned by |
dbSNP | rs121918457 |
dbSNP (classic) | rs121918457 |
ClinGen | rs121918457 |
ebi | rs121918457 |
HLI | rs121918457 |
Exac | rs121918457 |
Gnomad | rs121918457 |
Varsome | rs121918457 |
LitVar | rs121918457 |
Map | rs121918457 |
PheGenI | rs121918457 |
Biobank | rs121918457 |
1000 genomes | rs121918457 |
hgdp | rs121918457 |
ensembl | rs121918457 |
geneview | rs121918457 |
scholar | rs121918457 |
rs121918457 | |
pharmgkb | rs121918457 |
gwascentral | rs121918457 |
openSNP | rs121918457 |
23andMe | rs121918457 |
SNPshot | rs121918457 |
SNPdbe | rs121918457 |
MSV3d | rs121918457 |
GWAS Ctlg | rs121918457 |
Max Magnitude | 7 |
aka c.1403C>T (p.Thr468Met)
23andMe name: i5003213
ClinVar | |
---|---|
Risk | rs121918457(T;T) |
Alt | rs121918457(T;T) |
Reference | Rs121918457(C;C) |
Significance | Other |
Disease | Rasopathy LEOPARD syndrome 1 not provided Noonan syndrome 1 Noonan syndrome Noonan syndrome with multiple lentigines Cardiovascular phenotype |
Variation | info |
Gene | PTPN11 |
CLNDBN | Rasopathy LEOPARD syndrome 1 not provided Noonan syndrome 1 Noonan syndrome Noonan syndrome with multiple lentigines Cardiovascular phenotype |
Reversed | 0 |
HGVS | NC_000012.11:g.112926270C>T |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000033533.9, RCV000055884.6, RCV000077851.5, RCV000106323.1, RCV000157014.1, RCV000208002.1, RCV000247771.1, |