rs28933082
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28933082(C;T) |
Make rs28933082(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 176094614 |
Gene | HOXD13 |
is a | snp |
is | mentioned by |
dbSNP | rs28933082 |
dbSNP (classic) | rs28933082 |
ClinGen | rs28933082 |
ebi | rs28933082 |
HLI | rs28933082 |
Exac | rs28933082 |
Gnomad | rs28933082 |
Varsome | rs28933082 |
LitVar | rs28933082 |
Map | rs28933082 |
PheGenI | rs28933082 |
Biobank | rs28933082 |
1000 genomes | rs28933082 |
hgdp | rs28933082 |
ensembl | rs28933082 |
geneview | rs28933082 |
scholar | rs28933082 |
rs28933082 | |
pharmgkb | rs28933082 |
gwascentral | rs28933082 |
openSNP | rs28933082 |
23andMe | rs28933082 |
SNPshot | rs28933082 |
SNPdbe | rs28933082 |
MSV3d | rs28933082 |
GWAS Ctlg | rs28933082 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28933082(G;G) rs28933082(T;T) |
Alt | rs28933082(G;G) rs28933082(T;T) |
Reference | Rs28933082(C;C) |
Significance | Pathogenic |
Disease | Synpolydactyly 1 |
Variation | info |
Gene | HOXD13 |
CLNDBN | Synpolydactyly 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.176959342C>G; NC_000002.11:g.176959342C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000210953.2, RCV000016000.25, |