rs74315499
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 7.5 | Neurofibromatosis, type 2 |
Make rs74315499(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 29671847 |
Gene | NF2 |
is a | snp |
is | mentioned by |
dbSNP | rs74315499 |
dbSNP (classic) | rs74315499 |
ClinGen | rs74315499 |
ebi | rs74315499 |
HLI | rs74315499 |
Exac | rs74315499 |
Gnomad | rs74315499 |
Varsome | rs74315499 |
LitVar | rs74315499 |
Map | rs74315499 |
PheGenI | rs74315499 |
Biobank | rs74315499 |
1000 genomes | rs74315499 |
hgdp | rs74315499 |
ensembl | rs74315499 |
geneview | rs74315499 |
scholar | rs74315499 |
rs74315499 | |
pharmgkb | rs74315499 |
gwascentral | rs74315499 |
openSNP | rs74315499 |
23andMe | rs74315499 |
SNPshot | rs74315499 |
SNPdbe | rs74315499 |
MSV3d | rs74315499 |
GWAS Ctlg | rs74315499 |
Max Magnitude | 7.5 |
ClinVar | |
---|---|
Risk | rs74315499(T;T) |
Alt | rs74315499(T;T) |
Reference | Rs74315499(C;C) |
Significance | Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF2 |
CLNDBN | Neurofibromatosis, type 2 |
Reversed | 0 |
HGVS | NC_000022.10:g.30067836C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003453.2, |