rs863223290
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CGGCG;CGGCG) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs863223290(-;-) |
Make rs863223290(-;CGGCG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 91726602 |
Gene | ROR2 |
is a | snp |
is | mentioned by |
dbSNP | rs863223290 |
dbSNP (classic) | rs863223290 |
ClinGen | rs863223290 |
ebi | rs863223290 |
HLI | rs863223290 |
Exac | rs863223290 |
Gnomad | rs863223290 |
Varsome | rs863223290 |
LitVar | rs863223290 |
Map | rs863223290 |
PheGenI | rs863223290 |
Biobank | rs863223290 |
1000 genomes | rs863223290 |
hgdp | rs863223290 |
ensembl | rs863223290 |
geneview | rs863223290 |
scholar | rs863223290 |
rs863223290 | |
pharmgkb | rs863223290 |
gwascentral | rs863223290 |
openSNP | rs863223290 |
23andMe | rs863223290 |
SNPshot | rs863223290 |
SNPdbe | rs863223290 |
MSV3d | rs863223290 |
GWAS Ctlg | rs863223290 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223290(-;-) |
Alt | rs863223290(-;-) |
Reference | Rs863223290(CGGCG;CGGCG) |
Significance | Pathogenic |
Disease | Brachydactyly type B1 Robinow syndrome |
Variation | info |
Gene | ROR2 |
CLNDBN | Brachydactyly type B1 Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals |
Reversed | 1 |
HGVS | NC_000009.11:g.94488884_94488888delCGCCG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007734.3, RCV000007735.3, |