rs878854346
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGCGGCGGCTGCGGCGGCGGC;AGCGGCGGCTGCGGCGGCGGC) | 0 | common in clinvar |
(GCGGCGGCGGCAGCGGCGGCT;GCGGCGGCGGCAGCGGCGGCT) | 0 | common in clinvar |
Make rs878854346(-;-) |
Make rs878854346(-;AGCGGCGGCTGCGGCGGCGGC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 176093073 |
Gene | HOXD13 |
is a | snp |
is | mentioned by |
dbSNP | rs878854346 |
dbSNP (classic) | rs878854346 |
ClinGen | rs878854346 |
ebi | rs878854346 |
HLI | rs878854346 |
Exac | rs878854346 |
Gnomad | rs878854346 |
Varsome | rs878854346 |
LitVar | rs878854346 |
Map | rs878854346 |
PheGenI | rs878854346 |
Biobank | rs878854346 |
1000 genomes | rs878854346 |
hgdp | rs878854346 |
ensembl | rs878854346 |
geneview | rs878854346 |
scholar | rs878854346 |
rs878854346 | |
pharmgkb | rs878854346 |
gwascentral | rs878854346 |
openSNP | rs878854346 |
23andMe | rs878854346 |
SNPshot | rs878854346 |
SNPdbe | rs878854346 |
MSV3d | rs878854346 |
GWAS Ctlg | rs878854346 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878854346(-;-) Rs878854346(GCGGCGGCGGCAGCGGCGGCT;GCGGCGGCGGCAGCGGCGGCT) |
Alt | rs878854346(-;-) Rs878854346(GCGGCGGCGGCAGCGGCGGCT;GCGGCGGCGGCAGCGGCGGCT) |
Reference | Rs878854346(AGCGGCGGCTGCGGCGGCGGC;AGCGGCGGCTGCGGCGGCGGC) |
Significance | Pathogenic |
Disease | Brachydactyly-syndactyly syndrome |
Variation | info |
Gene | HOXD13 |
CLNDBN | Brachydactyly-syndactyly syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.176957801_176957821del21 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016003.30, |