rs772295894
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 5.5 | Neurofibromatosis type 1 |
(C;C) | 0 | common in clinvar |
(C;G) | 5.5 | Neurofibromatosis type 1 |
Make rs772295894(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 31338739 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs772295894 |
dbSNP (classic) | rs772295894 |
ClinGen | rs772295894 |
ebi | rs772295894 |
HLI | rs772295894 |
Exac | rs772295894 |
Gnomad | rs772295894 |
Varsome | rs772295894 |
LitVar | rs772295894 |
Map | rs772295894 |
PheGenI | rs772295894 |
Biobank | rs772295894 |
1000 genomes | rs772295894 |
hgdp | rs772295894 |
ensembl | rs772295894 |
geneview | rs772295894 |
scholar | rs772295894 |
rs772295894 | |
pharmgkb | rs772295894 |
gwascentral | rs772295894 |
openSNP | rs772295894 |
23andMe | rs772295894 |
SNPshot | rs772295894 |
SNPdbe | rs772295894 |
MSV3d | rs772295894 |
GWAS Ctlg | rs772295894 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs772295894(A;A) rs772295894(G;G) |
Alt | rs772295894(A;A) rs772295894(G;G) |
Reference | Rs772295894(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Neurofibromatosis not provided |
Variation | info |
Gene | NF1 |
CLNDBN | Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.29665757C>A |
CLNSRC | |
CLNACC | RCV000164442.2, RCV000199249.1, RCV000489640.1, |