rs28928892
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28928892(C;G) |
Make rs28928892(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 176094645 |
Gene | HOXD13 |
is a | snp |
is | mentioned by |
dbSNP | rs28928892 |
dbSNP (classic) | rs28928892 |
ClinGen | rs28928892 |
ebi | rs28928892 |
HLI | rs28928892 |
Exac | rs28928892 |
Gnomad | rs28928892 |
Varsome | rs28928892 |
LitVar | rs28928892 |
Map | rs28928892 |
PheGenI | rs28928892 |
Biobank | rs28928892 |
1000 genomes | rs28928892 |
hgdp | rs28928892 |
ensembl | rs28928892 |
geneview | rs28928892 |
scholar | rs28928892 |
rs28928892 | |
pharmgkb | rs28928892 |
gwascentral | rs28928892 |
openSNP | rs28928892 |
23andMe | rs28928892 |
SNPshot | rs28928892 |
SNPdbe | rs28928892 |
MSV3d | rs28928892 |
GWAS Ctlg | rs28928892 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28928892(A;A) rs28928892(G;G) |
Alt | rs28928892(A;A) rs28928892(G;G) |
Reference | Rs28928892(C;C) |
Significance | Pathogenic |
Disease | Brachydactyly type E1 Brachydactyly type D |
Variation | info |
Gene | HOXD13 |
CLNDBN | Brachydactyly type E1 Brachydactyly type D |
Reversed | 0 |
HGVS | NC_000002.11:g.176959373C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015997.25, RCV000015998.26, |