rs786203390
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786203390(C;C) |
Make rs786203390(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 31260484 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs786203390 |
dbSNP (classic) | rs786203390 |
ClinGen | rs786203390 |
ebi | rs786203390 |
HLI | rs786203390 |
Exac | rs786203390 |
Gnomad | rs786203390 |
Varsome | rs786203390 |
LitVar | rs786203390 |
Map | rs786203390 |
PheGenI | rs786203390 |
Biobank | rs786203390 |
1000 genomes | rs786203390 |
hgdp | rs786203390 |
ensembl | rs786203390 |
geneview | rs786203390 |
scholar | rs786203390 |
rs786203390 | |
pharmgkb | rs786203390 |
gwascentral | rs786203390 |
openSNP | rs786203390 |
23andMe | rs786203390 |
SNPshot | rs786203390 |
SNPdbe | rs786203390 |
MSV3d | rs786203390 |
GWAS Ctlg | rs786203390 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786203390(C;C) rs786203390(T;T) |
Alt | rs786203390(C;C) rs786203390(T;T) |
Reference | Rs786203390(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Neurofibromatosis |
Variation | info |
Gene | NF1 |
CLNDBN | Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.29587502G>C; NC_000017.10:g.29587502G>T |
CLNSRC | |
CLNACC | RCV000166673.1, RCV000200251.1, |