rs80338798
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80338798(A;A) |
Make rs80338798(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 12585761 |
Gene | RAF1 |
is a | snp |
is | mentioned by |
dbSNP | rs80338798 |
dbSNP (classic) | rs80338798 |
ClinGen | rs80338798 |
ebi | rs80338798 |
HLI | rs80338798 |
Exac | rs80338798 |
Gnomad | rs80338798 |
Varsome | rs80338798 |
LitVar | rs80338798 |
Map | rs80338798 |
PheGenI | rs80338798 |
Biobank | rs80338798 |
1000 genomes | rs80338798 |
hgdp | rs80338798 |
ensembl | rs80338798 |
geneview | rs80338798 |
scholar | rs80338798 |
rs80338798 | |
pharmgkb | rs80338798 |
gwascentral | rs80338798 |
openSNP | rs80338798 |
23andMe | rs80338798 |
SNPshot | rs80338798 |
SNPdbe | rs80338798 |
MSV3d | rs80338798 |
GWAS Ctlg | rs80338798 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338798(A;A) |
Alt | rs80338798(A;A) |
Reference | Rs80338798(G;G) |
Significance | Pathogenic |
Disease | Noonan syndrome with multiple lentigines |
Variation | info |
Gene | RAF1 |
CLNDBN | Noonan syndrome with multiple lentigines |
Reversed | 1 |
HGVS | NC_000003.11:g.12627260C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000020506.1, |