rs587776992
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587776992(-;AGCTCC) |
Make rs587776992(AGCTCC;AGCTCC) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 88715692 |
Gene | CTU2, PIEZO1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776992 |
dbSNP (classic) | rs587776992 |
ClinGen | rs587776992 |
ebi | rs587776992 |
HLI | rs587776992 |
Exac | rs587776992 |
Gnomad | rs587776992 |
Varsome | rs587776992 |
LitVar | rs587776992 |
Map | rs587776992 |
PheGenI | rs587776992 |
Biobank | rs587776992 |
1000 genomes | rs587776992 |
hgdp | rs587776992 |
ensembl | rs587776992 |
geneview | rs587776992 |
scholar | rs587776992 |
rs587776992 | |
pharmgkb | rs587776992 |
gwascentral | rs587776992 |
openSNP | rs587776992 |
23andMe | rs587776992 |
SNPshot | rs587776992 |
SNPdbe | rs587776992 |
MSV3d | rs587776992 |
GWAS Ctlg | rs587776992 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776992(CTCCAG;CTCCAG) |
Alt | rs587776992(CTCCAG;CTCCAG) |
Reference | Rs587776992(-;-) |
Significance | Pathogenic |
Disease | Xerocytosis not provided |
Variation | info |
Gene | CTU2 PIEZO1 |
CLNDBN | Xerocytosis not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.88782091_88782096dupCTCCAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000049237.4, RCV000485661.1, |