rs587777654
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs587777654(A;C) |
Make rs587777654(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 74095303 |
Gene | C2CD3 |
is a | snp |
is | mentioned by |
dbSNP | rs587777654 |
dbSNP (classic) | rs587777654 |
ClinGen | rs587777654 |
ebi | rs587777654 |
HLI | rs587777654 |
Exac | rs587777654 |
Gnomad | rs587777654 |
Varsome | rs587777654 |
LitVar | rs587777654 |
Map | rs587777654 |
PheGenI | rs587777654 |
Biobank | rs587777654 |
1000 genomes | rs587777654 |
hgdp | rs587777654 |
ensembl | rs587777654 |
geneview | rs587777654 |
scholar | rs587777654 |
rs587777654 | |
pharmgkb | rs587777654 |
gwascentral | rs587777654 |
openSNP | rs587777654 |
23andMe | rs587777654 |
SNPshot | rs587777654 |
SNPdbe | rs587777654 |
MSV3d | rs587777654 |
GWAS Ctlg | rs587777654 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777654(A;A) rs587777654(C;C) |
Alt | Rs587777654(A;A) rs587777654(C;C) |
Reference | Rs587777654(T;T) |
Significance | Pathogenic |
Disease | Orofaciodigital syndrome xiv |
Variation | info |
Gene | C2CD3 |
CLNDBN | Orofaciodigital syndrome xiv |
Reversed | 1 |
HGVS | NC_000011.9:g.73806348A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000133546.4, |