rs387906518
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs387906518(-;C) |
Make rs387906518(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 38995220 |
Gene | SOS1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906518 |
dbSNP (classic) | rs387906518 |
ClinGen | rs387906518 |
ebi | rs387906518 |
HLI | rs387906518 |
Exac | rs387906518 |
Gnomad | rs387906518 |
Varsome | rs387906518 |
LitVar | rs387906518 |
Map | rs387906518 |
PheGenI | rs387906518 |
Biobank | rs387906518 |
1000 genomes | rs387906518 |
hgdp | rs387906518 |
ensembl | rs387906518 |
geneview | rs387906518 |
scholar | rs387906518 |
rs387906518 | |
pharmgkb | rs387906518 |
gwascentral | rs387906518 |
openSNP | rs387906518 |
23andMe | rs387906518 |
SNPshot | rs387906518 |
SNPdbe | rs387906518 |
MSV3d | rs387906518 |
GWAS Ctlg | rs387906518 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906518(C;C) |
Alt | rs387906518(C;C) |
Reference | Rs387906518(-;-) |
Significance | Pathogenic |
Disease | Gingival fibromatosis 1 |
Variation | info |
Gene | SOS1 |
CLNDBN | Gingival fibromatosis 1 |
Reversed | 1 |
HGVS | NC_000002.11:g.39222362dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013728.26, |