rs727505381
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs727505381(C;C) |
Make rs727505381(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 39013523 |
Gene | SOS1 |
is a | snp |
is | mentioned by |
dbSNP | rs727505381 |
dbSNP (classic) | rs727505381 |
ClinGen | rs727505381 |
ebi | rs727505381 |
HLI | rs727505381 |
Exac | rs727505381 |
Gnomad | rs727505381 |
Varsome | rs727505381 |
LitVar | rs727505381 |
Map | rs727505381 |
PheGenI | rs727505381 |
Biobank | rs727505381 |
1000 genomes | rs727505381 |
hgdp | rs727505381 |
ensembl | rs727505381 |
geneview | rs727505381 |
scholar | rs727505381 |
rs727505381 | |
pharmgkb | rs727505381 |
gwascentral | rs727505381 |
openSNP | rs727505381 |
23andMe | rs727505381 |
SNPshot | rs727505381 |
SNPdbe | rs727505381 |
MSV3d | rs727505381 |
GWAS Ctlg | rs727505381 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727505381(C;C) |
Alt | rs727505381(C;C) |
Reference | Rs727505381(T;T) |
Significance | Pathogenic |
Disease | Noonan syndrome not provided |
Variation | info |
Gene | SOS1 |
CLNDBN | Noonan syndrome not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.39240664A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000156979.1, RCV000159124.3, |