rs267606921
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267606921(C;T) |
Make rs267606921(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 114713941 |
Gene | NRAS |
is a | snp |
is | mentioned by |
dbSNP | rs267606921 |
dbSNP (classic) | rs267606921 |
ClinGen | rs267606921 |
ebi | rs267606921 |
HLI | rs267606921 |
Exac | rs267606921 |
Gnomad | rs267606921 |
Varsome | rs267606921 |
LitVar | rs267606921 |
Map | rs267606921 |
PheGenI | rs267606921 |
Biobank | rs267606921 |
1000 genomes | rs267606921 |
hgdp | rs267606921 |
ensembl | rs267606921 |
geneview | rs267606921 |
scholar | rs267606921 |
rs267606921 | |
pharmgkb | rs267606921 |
gwascentral | rs267606921 |
openSNP | rs267606921 |
23andMe | rs267606921 |
SNPshot | rs267606921 |
SNPdbe | rs267606921 |
MSV3d | rs267606921 |
GWAS Ctlg | rs267606921 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606921(T;T) |
Alt | rs267606921(T;T) |
Reference | Rs267606921(C;C) |
Significance | Pathogenic |
Disease | Noonan syndrome 6 Noonan syndrome 1 Noonan syndrome Rasopathy |
Variation | info |
Gene | NRAS |
CLNDBN | Noonan syndrome 6 Noonan syndrome 1 Noonan syndrome Rasopathy |
Reversed | 1 |
HGVS | NC_000001.10:g.115256562G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014916.24, RCV000208537.1, RCV000211835.1, RCV000463185.1, |