rs1060499558
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060499558(-;-) |
Make rs1060499558(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 41965438 |
Gene | GLI3 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499558 |
dbSNP (classic) | rs1060499558 |
ClinGen | rs1060499558 |
ebi | rs1060499558 |
HLI | rs1060499558 |
Exac | rs1060499558 |
Gnomad | rs1060499558 |
Varsome | rs1060499558 |
LitVar | rs1060499558 |
Map | rs1060499558 |
PheGenI | rs1060499558 |
Biobank | rs1060499558 |
1000 genomes | rs1060499558 |
hgdp | rs1060499558 |
ensembl | rs1060499558 |
geneview | rs1060499558 |
scholar | rs1060499558 |
rs1060499558 | |
pharmgkb | rs1060499558 |
gwascentral | rs1060499558 |
openSNP | rs1060499558 |
23andMe | rs1060499558 |
SNPshot | rs1060499558 |
SNPdbe | rs1060499558 |
MSV3d | rs1060499558 |
GWAS Ctlg | rs1060499558 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499558(-;-) |
Alt | rs1060499558(-;-) |
Reference | Rs1060499558(G;G) |
Significance | Pathogenic |
Disease | Postaxial polydactyly type A1 |
Variation | info |
Gene | GLI3 |
CLNDBN | Postaxial polydactyly type A1 |
Reversed | 1 |
HGVS | NC_000007.13:g.42005036delC |
CLNSRC | |
CLNACC | RCV000454366.1, |