rs28936683
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | |
(T;T) | 0 | common in clinvar |
Make rs28936683(C;C) |
Make rs28936683(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 35434093 |
Gene | GDF5 |
is a | snp |
is | mentioned by |
dbSNP | rs28936683 |
dbSNP (classic) | rs28936683 |
ClinGen | rs28936683 |
ebi | rs28936683 |
HLI | rs28936683 |
Exac | rs28936683 |
Gnomad | rs28936683 |
Varsome | rs28936683 |
LitVar | rs28936683 |
Map | rs28936683 |
PheGenI | rs28936683 |
Biobank | rs28936683 |
1000 genomes | rs28936683 |
hgdp | rs28936683 |
ensembl | rs28936683 |
geneview | rs28936683 |
scholar | rs28936683 |
rs28936683 | |
pharmgkb | rs28936683 |
gwascentral | rs28936683 |
openSNP | rs28936683 |
23andMe | rs28936683 |
SNPshot | rs28936683 |
SNPdbe | rs28936683 |
MSV3d | rs28936683 |
GWAS Ctlg | rs28936683 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28936683(C;C) |
Alt | rs28936683(C;C) |
Reference | Rs28936683(T;T) |
Significance | Pathogenic |
Disease | Fibular hypoplasia and complex brachydactyly Brachydactyly type A2 |
Variation | info |
Gene | GDF5 |
CLNDBN | Fibular hypoplasia and complex brachydactyly Brachydactyly type A2 |
Reversed | 1 |
HGVS | NC_000020.10:g.34021891A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008887.2, RCV000008888.2, |