rs587777077
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAA;GAA) | 0 | common in clinvar |
(GAAG;GAAG) | 0 | common in clinvar |
(TCT;TCT) | 0 | common in clinvar |
Make rs587777077(-;-) |
Make rs587777077(-;CTT) |
Make rs587777077(CTT;CTT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 18 |
Position | 10671605 |
Gene | PIEZO2 |
is a | snp |
is | mentioned by |
dbSNP | rs587777077 |
dbSNP (classic) | rs587777077 |
ClinGen | rs587777077 |
ebi | rs587777077 |
HLI | rs587777077 |
Exac | rs587777077 |
Gnomad | rs587777077 |
Varsome | rs587777077 |
LitVar | rs587777077 |
Map | rs587777077 |
PheGenI | rs587777077 |
Biobank | rs587777077 |
1000 genomes | rs587777077 |
hgdp | rs587777077 |
ensembl | rs587777077 |
geneview | rs587777077 |
scholar | rs587777077 |
rs587777077 | |
pharmgkb | rs587777077 |
gwascentral | rs587777077 |
openSNP | rs587777077 |
23andMe | rs587777077 |
SNPshot | rs587777077 |
SNPdbe | rs587777077 |
MSV3d | rs587777077 |
GWAS Ctlg | rs587777077 |
Merged from | Rs878853136 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777077(TTC;TTC) Rs587777077(TCT;TCT) rs587777077(-;-) |
Alt | rs587777077(TTC;TTC) Rs587777077(TCT;TCT) rs587777077(-;-) |
Reference | Rs587777077(GAA;GAA) |
Significance | Pathogenic |
Disease | Oculomelic amyoplasia Distal arthrogryposis not provided |
Variation | info |
Gene | PIEZO2 |
CLNDBN | Oculomelic amyoplasia Distal arthrogryposis not provided |
Reversed | 1 |
HGVS | NC_000018.9:g.10671600_10671602delTCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000224433.3, RCV000415170.1, RCV000487334.1, |