rs786202180
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 5.5 | Neurofibromatosis type 1 |
(T;T) | 0 | common in clinvar |
Make rs786202180(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 31350253 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs786202180 |
dbSNP (classic) | rs786202180 |
ClinGen | rs786202180 |
ebi | rs786202180 |
HLI | rs786202180 |
Exac | rs786202180 |
Gnomad | rs786202180 |
Varsome | rs786202180 |
LitVar | rs786202180 |
Map | rs786202180 |
PheGenI | rs786202180 |
Biobank | rs786202180 |
1000 genomes | rs786202180 |
hgdp | rs786202180 |
ensembl | rs786202180 |
geneview | rs786202180 |
scholar | rs786202180 |
rs786202180 | |
pharmgkb | rs786202180 |
gwascentral | rs786202180 |
openSNP | rs786202180 |
23andMe | rs786202180 |
SNPshot | rs786202180 |
SNPdbe | rs786202180 |
MSV3d | rs786202180 |
GWAS Ctlg | rs786202180 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs786202180(-;-) |
Alt | rs786202180(-;-) |
Reference | Rs786202180(T;T) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | NF1 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.29677271delT |
CLNSRC | |
CLNACC | RCV000164876.1, |