rs1060503670
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common/normal |
(A;G) | 7.5 | Neurofibromatosis, type 2 |
Make rs1060503670(G;G) |
Chromosome | 22 |
Position | 29655592 |
Gene | NF2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060503670 |
dbSNP (classic) | rs1060503670 |
ClinGen | rs1060503670 |
ebi | rs1060503670 |
HLI | rs1060503670 |
Exac | rs1060503670 |
Gnomad | rs1060503670 |
Varsome | rs1060503670 |
LitVar | rs1060503670 |
Map | rs1060503670 |
PheGenI | rs1060503670 |
Biobank | rs1060503670 |
1000 genomes | rs1060503670 |
hgdp | rs1060503670 |
ensembl | rs1060503670 |
geneview | rs1060503670 |
scholar | rs1060503670 |
rs1060503670 | |
pharmgkb | rs1060503670 |
gwascentral | rs1060503670 |
openSNP | rs1060503670 |
23andMe | rs1060503670 |
SNPshot | rs1060503670 |
SNPdbe | rs1060503670 |
MSV3d | rs1060503670 |
GWAS Ctlg | rs1060503670 |
Max Magnitude | 7.5 |
NM_000268.3(NF2):c.517-2A>G
ClinVar | |
---|---|
Risk | rs1060503670(G;G) |
Alt | rs1060503670(G;G) |
Reference | Rs1060503670(A;A) |
Significance | Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF2 |
CLNDBN | Neurofibromatosis, type 2 |
Reversed | 0 |
HGVS | NC_000022.10:g.30051581A>G |
CLNSRC | |
CLNACC | RCV000458184.1, |