rs876657714
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5.5 | Neurofibromatosis type 1 |
Make rs876657714(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 31327535 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs876657714 |
dbSNP (classic) | rs876657714 |
ClinGen | rs876657714 |
ebi | rs876657714 |
HLI | rs876657714 |
Exac | rs876657714 |
Gnomad | rs876657714 |
Varsome | rs876657714 |
LitVar | rs876657714 |
Map | rs876657714 |
PheGenI | rs876657714 |
Biobank | rs876657714 |
1000 genomes | rs876657714 |
hgdp | rs876657714 |
ensembl | rs876657714 |
geneview | rs876657714 |
scholar | rs876657714 |
rs876657714 | |
pharmgkb | rs876657714 |
gwascentral | rs876657714 |
openSNP | rs876657714 |
23andMe | rs876657714 |
SNPshot | rs876657714 |
SNPdbe | rs876657714 |
MSV3d | rs876657714 |
GWAS Ctlg | rs876657714 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs876657714(T;T) |
Alt | rs876657714(T;T) |
Reference | Rs876657714(C;C) |
Significance | Pathogenic |
Disease | Neurofibromatosis not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | NF1 |
CLNDBN | Neurofibromatosis, type 1 not provided Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.29654553C>T |
CLNSRC | |
CLNACC | RCV000220916.1, RCV000483267.1, RCV000492551.1, |