rs863224447
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 5.5 | Neurofibromatosis type 1 |
(G;G) | 0 | common in clinvar |
Make rs863224447(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 31236021 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs863224447 |
dbSNP (classic) | rs863224447 |
ClinGen | rs863224447 |
ebi | rs863224447 |
HLI | rs863224447 |
Exac | rs863224447 |
Gnomad | rs863224447 |
Varsome | rs863224447 |
LitVar | rs863224447 |
Map | rs863224447 |
PheGenI | rs863224447 |
Biobank | rs863224447 |
1000 genomes | rs863224447 |
hgdp | rs863224447 |
ensembl | rs863224447 |
geneview | rs863224447 |
scholar | rs863224447 |
rs863224447 | |
pharmgkb | rs863224447 |
gwascentral | rs863224447 |
openSNP | rs863224447 |
23andMe | rs863224447 |
SNPshot | rs863224447 |
SNPdbe | rs863224447 |
MSV3d | rs863224447 |
GWAS Ctlg | rs863224447 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs863224447(C;C) |
Alt | rs863224447(C;C) |
Reference | Rs863224447(G;G) |
Significance | Probable-Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF1 |
CLNDBN | Neurofibromatosis, type 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.29563039G>C |
CLNSRC | |
CLNACC | RCV000199605.1, |