rs397514519
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397514519(C;T) |
Make rs397514519(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 35434220 |
Gene | GDF5 |
is a | snp |
is | mentioned by |
dbSNP | rs397514519 |
dbSNP (classic) | rs397514519 |
ClinGen | rs397514519 |
ebi | rs397514519 |
HLI | rs397514519 |
Exac | rs397514519 |
Gnomad | rs397514519 |
Varsome | rs397514519 |
LitVar | rs397514519 |
Map | rs397514519 |
PheGenI | rs397514519 |
Biobank | rs397514519 |
1000 genomes | rs397514519 |
hgdp | rs397514519 |
ensembl | rs397514519 |
geneview | rs397514519 |
scholar | rs397514519 |
rs397514519 | |
pharmgkb | rs397514519 |
gwascentral | rs397514519 |
openSNP | rs397514519 |
23andMe | rs397514519 |
SNPshot | rs397514519 |
SNPdbe | rs397514519 |
MSV3d | rs397514519 |
GWAS Ctlg | rs397514519 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514519(T;T) |
Alt | rs397514519(T;T) |
Reference | Rs397514519(C;C) |
Significance | Pathogenic |
Disease | Brachydactyly |
Variation | info |
Gene | GDF5 |
CLNDBN | Brachydactyly, type a1, c |
Reversed | 1 |
HGVS | NC_000020.10:g.34022018G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032711.2, |