rs878853138
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs878853138(C;T) |
Make rs878853138(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 18 |
Position | 10696257 |
Gene | PIEZO2 |
is a | snp |
is | mentioned by |
dbSNP | rs878853138 |
dbSNP (classic) | rs878853138 |
ClinGen | rs878853138 |
ebi | rs878853138 |
HLI | rs878853138 |
Exac | rs878853138 |
Gnomad | rs878853138 |
Varsome | rs878853138 |
LitVar | rs878853138 |
Map | rs878853138 |
PheGenI | rs878853138 |
Biobank | rs878853138 |
1000 genomes | rs878853138 |
hgdp | rs878853138 |
ensembl | rs878853138 |
geneview | rs878853138 |
scholar | rs878853138 |
rs878853138 | |
pharmgkb | rs878853138 |
gwascentral | rs878853138 |
openSNP | rs878853138 |
23andMe | rs878853138 |
SNPshot | rs878853138 |
SNPdbe | rs878853138 |
MSV3d | rs878853138 |
GWAS Ctlg | rs878853138 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853138(T;T) |
Alt | rs878853138(T;T) |
Reference | Rs878853138(C;C) |
Significance | Pathogenic |
Disease | Oculomelic amyoplasia |
Variation | info |
Gene | PIEZO2 |
CLNDBN | Oculomelic amyoplasia |
Reversed | 1 |
HGVS | NC_000018.9:g.10696255G>A |
CLNSRC | |
CLNACC | RCV000224843.1, |