rs796052130
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs796052130(C;C) |
Make rs796052130(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 185408399 |
Gene | C4orf47, UFSP2 |
is a | snp |
is | mentioned by |
dbSNP | rs796052130 |
dbSNP (classic) | rs796052130 |
ClinGen | rs796052130 |
ebi | rs796052130 |
HLI | rs796052130 |
Exac | rs796052130 |
Gnomad | rs796052130 |
Varsome | rs796052130 |
LitVar | rs796052130 |
Map | rs796052130 |
PheGenI | rs796052130 |
Biobank | rs796052130 |
1000 genomes | rs796052130 |
hgdp | rs796052130 |
ensembl | rs796052130 |
geneview | rs796052130 |
scholar | rs796052130 |
rs796052130 | |
pharmgkb | rs796052130 |
gwascentral | rs796052130 |
openSNP | rs796052130 |
23andMe | rs796052130 |
SNPshot | rs796052130 |
SNPdbe | rs796052130 |
MSV3d | rs796052130 |
GWAS Ctlg | rs796052130 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052130(C;C) |
Alt | rs796052130(C;C) |
Reference | Rs796052130(T;T) |
Significance | Pathogenic |
Disease | Hip dysplasia |
Variation | info |
Gene | UFSP2 |
CLNDBN | Hip dysplasia, beukes type |
Reversed | 1 |
HGVS | NC_000004.11:g.186329553A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000186597.2, |