rs189150283
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs189150283(C;T) |
Make rs189150283(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 22 |
Position | 20992304 |
Gene | LZTR1 |
is a | snp |
is | mentioned by |
dbSNP | rs189150283 |
dbSNP (classic) | rs189150283 |
ClinGen | rs189150283 |
ebi | rs189150283 |
HLI | rs189150283 |
Exac | rs189150283 |
Gnomad | rs189150283 |
Varsome | rs189150283 |
LitVar | rs189150283 |
Map | rs189150283 |
PheGenI | rs189150283 |
Biobank | rs189150283 |
1000 genomes | rs189150283 |
hgdp | rs189150283 |
ensembl | rs189150283 |
geneview | rs189150283 |
scholar | rs189150283 |
rs189150283 | |
pharmgkb | rs189150283 |
gwascentral | rs189150283 |
openSNP | rs189150283 |
23andMe | rs189150283 |
SNPshot | rs189150283 |
SNPdbe | rs189150283 |
MSV3d | rs189150283 |
GWAS Ctlg | rs189150283 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs189150283(T;T) |
Alt | rs189150283(T;T) |
Reference | Rs189150283(C;C) |
Significance | Pathogenic |
Disease | Schwannomatosis 2 |
Variation | info |
Gene | LZTR1 |
CLNDBN | Schwannomatosis 2 |
Reversed | 0 |
HGVS | NC_000022.10:g.21346593C>T |
CLNSRC | |
CLNACC | RCV000329167.1, |