rs876658853
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 5.5 | Neurofibromatosis type 1 |
(T;T) | 0 | common in clinvar |
Make rs876658853(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 31227526 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs876658853 |
dbSNP (classic) | rs876658853 |
ClinGen | rs876658853 |
ebi | rs876658853 |
HLI | rs876658853 |
Exac | rs876658853 |
Gnomad | rs876658853 |
Varsome | rs876658853 |
LitVar | rs876658853 |
Map | rs876658853 |
PheGenI | rs876658853 |
Biobank | rs876658853 |
1000 genomes | rs876658853 |
hgdp | rs876658853 |
ensembl | rs876658853 |
geneview | rs876658853 |
scholar | rs876658853 |
rs876658853 | |
pharmgkb | rs876658853 |
gwascentral | rs876658853 |
openSNP | rs876658853 |
23andMe | rs876658853 |
SNPshot | rs876658853 |
SNPdbe | rs876658853 |
MSV3d | rs876658853 |
GWAS Ctlg | rs876658853 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs876658853(A;A) |
Alt | rs876658853(A;A) |
Reference | Rs876658853(T;T) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | NF1 |
CLNDBN | Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.29554544T>A |
CLNSRC | |
CLNACC | RCV000219741.1, RCV000414491.1, |