rs876660595
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5.5 | Neurofibromatosis type 1 |
(G;G) | 0 | common in clinvar |
Make rs876660595(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 31219004 |
Gene | NF1 |
is a | snp |
is | mentioned by |
dbSNP | rs876660595 |
dbSNP (classic) | rs876660595 |
ClinGen | rs876660595 |
ebi | rs876660595 |
HLI | rs876660595 |
Exac | rs876660595 |
Gnomad | rs876660595 |
Varsome | rs876660595 |
LitVar | rs876660595 |
Map | rs876660595 |
PheGenI | rs876660595 |
Biobank | rs876660595 |
1000 genomes | rs876660595 |
hgdp | rs876660595 |
ensembl | rs876660595 |
geneview | rs876660595 |
scholar | rs876660595 |
rs876660595 | |
pharmgkb | rs876660595 |
gwascentral | rs876660595 |
openSNP | rs876660595 |
23andMe | rs876660595 |
SNPshot | rs876660595 |
SNPdbe | rs876660595 |
MSV3d | rs876660595 |
GWAS Ctlg | rs876660595 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs876660595(A;A) |
Alt | rs876660595(A;A) |
Reference | Rs876660595(G;G) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | NF1 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.29546022G>A |
CLNSRC | |
CLNACC | RCV000219963.1, |