rs878853139
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs878853139(C;T) |
Make rs878853139(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 18 |
Position | 10696263 |
Gene | PIEZO2 |
is a | snp |
is | mentioned by |
dbSNP | rs878853139 |
dbSNP (classic) | rs878853139 |
ClinGen | rs878853139 |
ebi | rs878853139 |
HLI | rs878853139 |
Exac | rs878853139 |
Gnomad | rs878853139 |
Varsome | rs878853139 |
LitVar | rs878853139 |
Map | rs878853139 |
PheGenI | rs878853139 |
Biobank | rs878853139 |
1000 genomes | rs878853139 |
hgdp | rs878853139 |
ensembl | rs878853139 |
geneview | rs878853139 |
scholar | rs878853139 |
rs878853139 | |
pharmgkb | rs878853139 |
gwascentral | rs878853139 |
openSNP | rs878853139 |
23andMe | rs878853139 |
SNPshot | rs878853139 |
SNPdbe | rs878853139 |
MSV3d | rs878853139 |
GWAS Ctlg | rs878853139 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853139(T;T) |
Alt | rs878853139(T;T) |
Reference | Rs878853139(C;C) |
Significance | Pathogenic |
Disease | Oculomelic amyoplasia |
Variation | info |
Gene | PIEZO2 |
CLNDBN | Oculomelic amyoplasia |
Reversed | 1 |
HGVS | NC_000018.9:g.10696261G>A |
CLNSRC | |
CLNACC | RCV000224177.1, |