rs724159993
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GACTAGAG;GACTAGAG) | 0 | common in clinvar |
Make rs724159993(-;-) |
Make rs724159993(-;GACTAGAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 10671541 |
Gene | PIEZO2 |
is a | snp |
is | mentioned by |
dbSNP | rs724159993 |
dbSNP (classic) | rs724159993 |
ClinGen | rs724159993 |
ebi | rs724159993 |
HLI | rs724159993 |
Exac | rs724159993 |
Gnomad | rs724159993 |
Varsome | rs724159993 |
LitVar | rs724159993 |
Map | rs724159993 |
PheGenI | rs724159993 |
Biobank | rs724159993 |
1000 genomes | rs724159993 |
hgdp | rs724159993 |
ensembl | rs724159993 |
geneview | rs724159993 |
scholar | rs724159993 |
rs724159993 | |
pharmgkb | rs724159993 |
gwascentral | rs724159993 |
openSNP | rs724159993 |
23andMe | rs724159993 |
SNPshot | rs724159993 |
SNPdbe | rs724159993 |
MSV3d | rs724159993 |
GWAS Ctlg | rs724159993 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs724159993(-;-) |
Alt | rs724159993(-;-) |
Reference | Rs724159993(GACTAGAG;GACTAGAG) |
Significance | Pathogenic |
Disease | Gordon's syndrome |
Variation | info |
Gene | PIEZO2 |
CLNDBN | Gordon's syndrome |
Reversed | 1 |
HGVS | NC_000018.9:g.10671538_10671545delCTCTAGTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000125477.4, |