rs74315494
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 7.5 | Neurofibromatosis, type 2 |
Make rs74315494(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 29681477 |
Gene | NF2 |
is a | snp |
is | mentioned by |
dbSNP | rs74315494 |
dbSNP (classic) | rs74315494 |
ClinGen | rs74315494 |
ebi | rs74315494 |
HLI | rs74315494 |
Exac | rs74315494 |
Gnomad | rs74315494 |
Varsome | rs74315494 |
LitVar | rs74315494 |
Map | rs74315494 |
PheGenI | rs74315494 |
Biobank | rs74315494 |
1000 genomes | rs74315494 |
hgdp | rs74315494 |
ensembl | rs74315494 |
geneview | rs74315494 |
scholar | rs74315494 |
rs74315494 | |
pharmgkb | rs74315494 |
gwascentral | rs74315494 |
openSNP | rs74315494 |
23andMe | rs74315494 |
SNPshot | rs74315494 |
SNPdbe | rs74315494 |
MSV3d | rs74315494 |
GWAS Ctlg | rs74315494 |
Max Magnitude | 7.5 |
ClinVar | |
---|---|
Risk | rs74315494(C;C) |
Alt | rs74315494(C;C) |
Reference | Rs74315494(A;A) |
Significance | Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF2 |
CLNDBN | Neurofibromatosis, type 2 |
Reversed | 0 |
HGVS | NC_000022.10:g.30077466A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003448.2, |