rs587777083
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587777083(-;CT) |
Make rs587777083(CT;CT) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 27470949 |
Gene | IFT172 |
is a | snp |
is | mentioned by |
dbSNP | rs587777083 |
dbSNP (classic) | rs587777083 |
ClinGen | rs587777083 |
ebi | rs587777083 |
HLI | rs587777083 |
Exac | rs587777083 |
Gnomad | rs587777083 |
Varsome | rs587777083 |
LitVar | rs587777083 |
Map | rs587777083 |
PheGenI | rs587777083 |
Biobank | rs587777083 |
1000 genomes | rs587777083 |
hgdp | rs587777083 |
ensembl | rs587777083 |
geneview | rs587777083 |
scholar | rs587777083 |
rs587777083 | |
pharmgkb | rs587777083 |
gwascentral | rs587777083 |
openSNP | rs587777083 |
23andMe | rs587777083 |
SNPshot | rs587777083 |
SNPdbe | rs587777083 |
MSV3d | rs587777083 |
GWAS Ctlg | rs587777083 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777083(CT;CT) |
Alt | rs587777083(CT;CT) |
Reference | Rs587777083(-;-) |
Significance | Pathogenic |
Disease | Short-rib thoracic dysplasia 10 with polydactyly |
Variation | info |
Gene | IFT172 |
CLNDBN | Short-rib thoracic dysplasia 10 with polydactyly |
Reversed | 0 |
HGVS | NC_000002.11:g.27693815_27693816dupCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000083275.4, |