rs886039821
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs886039821(C;T) |
Make rs886039821(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 18 |
Position | 10715679 |
Gene | PIEZO2 |
is a | snp |
is | mentioned by |
dbSNP | rs886039821 |
dbSNP (classic) | rs886039821 |
ClinGen | rs886039821 |
ebi | rs886039821 |
HLI | rs886039821 |
Exac | rs886039821 |
Gnomad | rs886039821 |
Varsome | rs886039821 |
LitVar | rs886039821 |
Map | rs886039821 |
PheGenI | rs886039821 |
Biobank | rs886039821 |
1000 genomes | rs886039821 |
hgdp | rs886039821 |
ensembl | rs886039821 |
geneview | rs886039821 |
scholar | rs886039821 |
rs886039821 | |
pharmgkb | rs886039821 |
gwascentral | rs886039821 |
openSNP | rs886039821 |
23andMe | rs886039821 |
SNPshot | rs886039821 |
SNPdbe | rs886039821 |
MSV3d | rs886039821 |
GWAS Ctlg | rs886039821 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886039821(T;T) |
Alt | rs886039821(T;T) |
Reference | Rs886039821(C;C) |
Significance | Pathogenic |
Disease | Arthrogryposis |
Variation | info |
Gene | PIEZO2 |
CLNDBN | Arthrogryposis, distal, with impaired proprioception and touch |
Reversed | 1 |
HGVS | NC_000018.9:g.10715677G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000256348.2, |