rs1060503667
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;G) | 7.5 | Neurofibromatosis, type 2 |
Make rs1060503667(G;G) |
Chromosome | 22 |
Position | 29642270 |
Gene | NF2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060503667 |
dbSNP (classic) | rs1060503667 |
ClinGen | rs1060503667 |
ebi | rs1060503667 |
HLI | rs1060503667 |
Exac | rs1060503667 |
Gnomad | rs1060503667 |
Varsome | rs1060503667 |
LitVar | rs1060503667 |
Map | rs1060503667 |
PheGenI | rs1060503667 |
Biobank | rs1060503667 |
1000 genomes | rs1060503667 |
hgdp | rs1060503667 |
ensembl | rs1060503667 |
geneview | rs1060503667 |
scholar | rs1060503667 |
rs1060503667 | |
pharmgkb | rs1060503667 |
gwascentral | rs1060503667 |
openSNP | rs1060503667 |
23andMe | rs1060503667 |
SNPshot | rs1060503667 |
SNPdbe | rs1060503667 |
MSV3d | rs1060503667 |
GWAS Ctlg | rs1060503667 |
Max Magnitude | 7.5 |
NM_000268.3(NF2):c.432C>G (p.Tyr144Ter)
ClinVar | |
---|---|
Risk | rs1060503667(G;G) |
Alt | rs1060503667(G;G) |
Reference | Rs1060503667(C;C) |
Significance | Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF2 |
CLNDBN | Neurofibromatosis, type 2 |
Reversed | 0 |
HGVS | NC_000022.10:g.30038259C>G |
CLNSRC | |
CLNACC | RCV000462897.1, |