rs587777179
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACGC;ACGC) | 0 | common in clinvar |
Make rs587777179(-;-) |
Make rs587777179(-;CGCA) |
Make rs587777179(CGCA;CGCA) |
Reference | GRCh38 38.1/142 |
Chromosome | 22 |
Position | 20996908 |
Gene | LZTR1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777179 |
dbSNP (classic) | rs587777179 |
ClinGen | rs587777179 |
ebi | rs587777179 |
HLI | rs587777179 |
Exac | rs587777179 |
Gnomad | rs587777179 |
Varsome | rs587777179 |
LitVar | rs587777179 |
Map | rs587777179 |
PheGenI | rs587777179 |
Biobank | rs587777179 |
1000 genomes | rs587777179 |
hgdp | rs587777179 |
ensembl | rs587777179 |
geneview | rs587777179 |
scholar | rs587777179 |
rs587777179 | |
pharmgkb | rs587777179 |
gwascentral | rs587777179 |
openSNP | rs587777179 |
23andMe | rs587777179 |
SNPshot | rs587777179 |
SNPdbe | rs587777179 |
MSV3d | rs587777179 |
GWAS Ctlg | rs587777179 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777179(-;-) |
Alt | rs587777179(-;-) |
Reference | Rs587777179(ACGC;ACGC) |
Significance | Pathogenic |
Disease | Schwannomatosis 2 |
Variation | info |
Gene | LZTR1 |
CLNDBN | Schwannomatosis 2 |
Reversed | 0 |
HGVS | NC_000022.10:g.21351197_21351200delCGCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087295.4, |