rs864622509
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 5.5 | Neurofibromatosis type 1 |
Make rs864622509(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 31340503 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs864622509 |
dbSNP (classic) | rs864622509 |
ClinGen | rs864622509 |
ebi | rs864622509 |
HLI | rs864622509 |
Exac | rs864622509 |
Gnomad | rs864622509 |
Varsome | rs864622509 |
LitVar | rs864622509 |
Map | rs864622509 |
PheGenI | rs864622509 |
Biobank | rs864622509 |
1000 genomes | rs864622509 |
hgdp | rs864622509 |
ensembl | rs864622509 |
geneview | rs864622509 |
scholar | rs864622509 |
rs864622509 | |
pharmgkb | rs864622509 |
gwascentral | rs864622509 |
openSNP | rs864622509 |
23andMe | rs864622509 |
SNPshot | rs864622509 |
SNPdbe | rs864622509 |
MSV3d | rs864622509 |
GWAS Ctlg | rs864622509 |
Max Magnitude | 5.5 |
aka c.6859-2A>G
23andMe name: i723194
ClinVar | |
---|---|
Risk | rs864622509(G;G) |
Alt | rs864622509(G;G) |
Reference | Rs864622509(A;A) |
Significance | Probable-Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF1 |
CLNDBN | Neurofibromatosis, type 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.29667521A>G |
CLNSRC | |
CLNACC | RCV000205966.1, |