rs869312898
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs869312898(A;G) |
Make rs869312898(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 37187460 |
Gene | C5orf42 |
is a | snp |
is | mentioned by |
dbSNP | rs869312898 |
dbSNP (classic) | rs869312898 |
ClinGen | rs869312898 |
ebi | rs869312898 |
HLI | rs869312898 |
Exac | rs869312898 |
Gnomad | rs869312898 |
Varsome | rs869312898 |
LitVar | rs869312898 |
Map | rs869312898 |
PheGenI | rs869312898 |
Biobank | rs869312898 |
1000 genomes | rs869312898 |
hgdp | rs869312898 |
ensembl | rs869312898 |
geneview | rs869312898 |
scholar | rs869312898 |
rs869312898 | |
pharmgkb | rs869312898 |
gwascentral | rs869312898 |
openSNP | rs869312898 |
23andMe | rs869312898 |
SNPshot | rs869312898 |
SNPdbe | rs869312898 |
MSV3d | rs869312898 |
GWAS Ctlg | rs869312898 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312898(G;G) |
Alt | rs869312898(G;G) |
Reference | Rs869312898(A;A) |
Significance | Probable-Pathogenic |
Disease | Orofaciodigital syndrome 6 |
Variation | info |
Gene | C5orf42 |
CLNDBN | Orofaciodigital syndrome 6 |
Reversed | 1 |
HGVS | NC_000005.9:g.37187562T>C |
CLNSRC | |
CLNACC | RCV000210418.1, |