rs876658997
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs876658997(G;G) |
Make rs876658997(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 31230384 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs876658997 |
dbSNP (classic) | rs876658997 |
ClinGen | rs876658997 |
ebi | rs876658997 |
HLI | rs876658997 |
Exac | rs876658997 |
Gnomad | rs876658997 |
Varsome | rs876658997 |
LitVar | rs876658997 |
Map | rs876658997 |
PheGenI | rs876658997 |
Biobank | rs876658997 |
1000 genomes | rs876658997 |
hgdp | rs876658997 |
ensembl | rs876658997 |
geneview | rs876658997 |
scholar | rs876658997 |
rs876658997 | |
pharmgkb | rs876658997 |
gwascentral | rs876658997 |
openSNP | rs876658997 |
23andMe | rs876658997 |
SNPshot | rs876658997 |
SNPdbe | rs876658997 |
MSV3d | rs876658997 |
GWAS Ctlg | rs876658997 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876658997(G;G) |
Alt | rs876658997(G;G) |
Reference | Rs876658997(T;T) |
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.29557402T>G |
CLNSRC | |
CLNACC | RCV000213563.1, RCV000230814.1, |