rs1057519626
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTGAGAACTTC;CTGAGAACTTC) | 0 | common in clinvar |
Make rs1057519626(-;-) |
Make rs1057519626(-;CTGAGAACTTC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 18 |
Position | 10762940 |
Gene | PIEZO2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519626 |
dbSNP (classic) | rs1057519626 |
ClinGen | rs1057519626 |
ebi | rs1057519626 |
HLI | rs1057519626 |
Exac | rs1057519626 |
Gnomad | rs1057519626 |
Varsome | rs1057519626 |
LitVar | rs1057519626 |
Map | rs1057519626 |
PheGenI | rs1057519626 |
Biobank | rs1057519626 |
1000 genomes | rs1057519626 |
hgdp | rs1057519626 |
ensembl | rs1057519626 |
geneview | rs1057519626 |
scholar | rs1057519626 |
rs1057519626 | |
pharmgkb | rs1057519626 |
gwascentral | rs1057519626 |
openSNP | rs1057519626 |
23andMe | rs1057519626 |
SNPshot | rs1057519626 |
SNPdbe | rs1057519626 |
MSV3d | rs1057519626 |
GWAS Ctlg | rs1057519626 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519626(-;-) |
Alt | rs1057519626(-;-) |
Reference | Rs1057519626(CTGAGAACTTC;CTGAGAACTTC) |
Significance | Pathogenic |
Disease | Arthrogryposis |
Variation | info |
Gene | PIEZO2 |
CLNDBN | Arthrogryposis, distal, with impaired proprioception and touch |
Reversed | 1 |
HGVS | NC_000018.9:g.10762938_10762948delGAAGTTCTCAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415541.1, |