rs397516828
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397516828(C;G) |
Make rs397516828(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 12604188 |
Gene | RAF1 |
is a | snp |
is | mentioned by |
dbSNP | rs397516828 |
dbSNP (classic) | rs397516828 |
ClinGen | rs397516828 |
ebi | rs397516828 |
HLI | rs397516828 |
Exac | rs397516828 |
Gnomad | rs397516828 |
Varsome | rs397516828 |
LitVar | rs397516828 |
Map | rs397516828 |
PheGenI | rs397516828 |
Biobank | rs397516828 |
1000 genomes | rs397516828 |
hgdp | rs397516828 |
ensembl | rs397516828 |
geneview | rs397516828 |
scholar | rs397516828 |
rs397516828 | |
pharmgkb | rs397516828 |
gwascentral | rs397516828 |
openSNP | rs397516828 |
23andMe | rs397516828 |
SNPshot | rs397516828 |
SNPdbe | rs397516828 |
MSV3d | rs397516828 |
GWAS Ctlg | rs397516828 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516828(G;G) rs397516828(T;T) |
Alt | rs397516828(G;G) rs397516828(T;T) |
Reference | Rs397516828(C;C) |
Significance | Other |
Disease | Noonan syndrome 5 Noonan syndrome not provided |
Variation | info |
Gene | RAF1 |
CLNDBN | Noonan syndrome 5 Noonan syndrome not provided |
Reversed | 1 |
HGVS | NC_000003.11:g.12645687G>A; NC_000003.11:g.12645687G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000106325.3, RCV000211850.2, RCV000037706.4, RCV000159077.1, RCV000277865.1, |