rs730882191
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GGCCATGTCGCCGGGCGCTTGCCCGTACGGCACTC;GGCCATGTCGCCGGGCGCTTGCCCGTACGGCACTC) | 0 | common in clinvar |
Make rs730882191(-;-) |
Make rs730882191(-;GGCCATGTCGCCGGGCGCTTGCCCGTACGGCACTC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 135028925 |
Gene | PITX1 |
is a | snp |
is | mentioned by |
dbSNP | rs730882191 |
dbSNP (classic) | rs730882191 |
ClinGen | rs730882191 |
ebi | rs730882191 |
HLI | rs730882191 |
Exac | rs730882191 |
Gnomad | rs730882191 |
Varsome | rs730882191 |
LitVar | rs730882191 |
Map | rs730882191 |
PheGenI | rs730882191 |
Biobank | rs730882191 |
1000 genomes | rs730882191 |
hgdp | rs730882191 |
ensembl | rs730882191 |
geneview | rs730882191 |
scholar | rs730882191 |
rs730882191 | |
pharmgkb | rs730882191 |
gwascentral | rs730882191 |
openSNP | rs730882191 |
23andMe | rs730882191 |
SNPshot | rs730882191 |
SNPdbe | rs730882191 |
MSV3d | rs730882191 |
GWAS Ctlg | rs730882191 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882191(-;-) |
Alt | rs730882191(-;-) |
Reference | Rs730882191(GGCCATGTCGCCGGGCGCTTGCCCGTACGGCACTC;GGCCATGTCGCCGGGCGCTTGCCCGTACGGCACTC) |
Significance | Pathogenic |
Disease | Talipes equinovarus |
Variation | info |
Gene | PITX1 |
CLNDBN | Talipes equinovarus |
Reversed | 1 |
HGVS | NC_000005.9:g.134364615_134364649del35 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000030814.3, |