rs140926412
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs140926412(A;A) |
Make rs140926412(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 7690177 |
Gene | GDF3 |
is a | snp |
is | mentioned by |
dbSNP | rs140926412 |
dbSNP (classic) | rs140926412 |
ClinGen | rs140926412 |
ebi | rs140926412 |
HLI | rs140926412 |
Exac | rs140926412 |
Gnomad | rs140926412 |
Varsome | rs140926412 |
LitVar | rs140926412 |
Map | rs140926412 |
PheGenI | rs140926412 |
Biobank | rs140926412 |
1000 genomes | rs140926412 |
hgdp | rs140926412 |
ensembl | rs140926412 |
geneview | rs140926412 |
scholar | rs140926412 |
rs140926412 | |
pharmgkb | rs140926412 |
gwascentral | rs140926412 |
openSNP | rs140926412 |
23andMe | rs140926412 |
SNPshot | rs140926412 |
SNPdbe | rs140926412 |
MSV3d | rs140926412 |
GWAS Ctlg | rs140926412 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140926412(A;A) rs140926412(T;T) |
Alt | rs140926412(A;A) rs140926412(T;T) |
Reference | Rs140926412(G;G) |
Significance | Pathogenic |
Disease | Klippel-Feil syndrome 3 Microphthalmia Hemivertebrae Missing ribs Scoliosis Supernumerary ribs |
Variation | info |
Gene | GDF3 |
CLNDBN | Klippel-Feil syndrome 3, autosomal dominant Microphthalmia, isolated, with coloboma 6 Hemivertebrae Missing ribs Scoliosis Supernumerary ribs |
Reversed | 0 |
HGVS | NC_000012.11:g.7842773G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023555.2, RCV000023556.2, RCV000414875.1, |