rs121434260
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TTC) | 7.5 | Neurofibromatosis, type 2 |
(CTT;CTT) | 0 | common in clinvar |
(TTC;TTC) | 0 | common in clinvar |
Make rs121434260(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 29639135 |
Gene | NF2 |
is a | snp |
is | mentioned by |
dbSNP | rs121434260 |
dbSNP (classic) | rs121434260 |
ClinGen | rs121434260 |
ebi | rs121434260 |
HLI | rs121434260 |
Exac | rs121434260 |
Gnomad | rs121434260 |
Varsome | rs121434260 |
LitVar | rs121434260 |
Map | rs121434260 |
PheGenI | rs121434260 |
Biobank | rs121434260 |
1000 genomes | rs121434260 |
hgdp | rs121434260 |
ensembl | rs121434260 |
geneview | rs121434260 |
scholar | rs121434260 |
rs121434260 | |
pharmgkb | rs121434260 |
gwascentral | rs121434260 |
openSNP | rs121434260 |
23andMe | rs121434260 |
SNPshot | rs121434260 |
SNPdbe | rs121434260 |
MSV3d | rs121434260 |
GWAS Ctlg | rs121434260 |
Max Magnitude | 7.5 |
ClinVar | |
---|---|
Risk | rs121434260(-;-) |
Alt | rs121434260(-;-) |
Reference | Rs121434260(CTT;CTT) |
Significance | Pathogenic |
Disease | Neurofibromatosis |
Variation | info |
Gene | NF2 |
CLNDBN | Neurofibromatosis, type 2 |
Reversed | 0 |
HGVS | NC_000022.10:g.30035124_30035126delTTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003449.2, |