rs104894360
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 7 | Noonan syndrome |
Make rs104894360(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 25209904 |
Gene | KRAS |
is a | snp |
is | mentioned by |
dbSNP | rs104894360 |
dbSNP (classic) | rs104894360 |
ClinGen | rs104894360 |
ebi | rs104894360 |
HLI | rs104894360 |
Exac | rs104894360 |
Gnomad | rs104894360 |
Varsome | rs104894360 |
LitVar | rs104894360 |
Map | rs104894360 |
PheGenI | rs104894360 |
Biobank | rs104894360 |
1000 genomes | rs104894360 |
hgdp | rs104894360 |
ensembl | rs104894360 |
geneview | rs104894360 |
scholar | rs104894360 |
rs104894360 | |
pharmgkb | rs104894360 |
gwascentral | rs104894360 |
openSNP | rs104894360 |
23andMe | rs104894360 |
SNPshot | rs104894360 |
SNPdbe | rs104894360 |
MSV3d | rs104894360 |
GWAS Ctlg | rs104894360 |
Max Magnitude | 7 |
aka c.458A>T (p.Asp153Val)
23andMe name: i5002716
ClinVar | |
---|---|
Risk | rs104894360(G;G) rs104894360(T;T) |
Alt | rs104894360(G;G) rs104894360(T;T) |
Reference | Rs104894360(A;A) |
Significance | Pathogenic |
Disease | Cardiofaciocutaneous syndrome 2 Noonan syndrome 3 Rasopathy not provided Noonan syndrome |
Variation | info |
Gene | KRAS |
CLNDBN | Cardiofaciocutaneous syndrome 2 Noonan syndrome 3 Rasopathy not provided Noonan syndrome |
Reversed | 1 |
HGVS | NC_000012.11:g.25362838T>A; NC_000012.11:g.25362838T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013417.23, RCV000013418.29, RCV000157940.1, RCV000212501.1, RCV000038274.2, RCV000157939.1, |