rs879255500
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs879255500(C;C) |
Make rs879255500(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 96799056 |
Gene | CNNM4 |
is a | snp |
is | mentioned by |
dbSNP | rs879255500 |
dbSNP (classic) | rs879255500 |
ClinGen | rs879255500 |
ebi | rs879255500 |
HLI | rs879255500 |
Exac | rs879255500 |
Gnomad | rs879255500 |
Varsome | rs879255500 |
LitVar | rs879255500 |
Map | rs879255500 |
PheGenI | rs879255500 |
Biobank | rs879255500 |
1000 genomes | rs879255500 |
hgdp | rs879255500 |
ensembl | rs879255500 |
geneview | rs879255500 |
scholar | rs879255500 |
rs879255500 | |
pharmgkb | rs879255500 |
gwascentral | rs879255500 |
openSNP | rs879255500 |
23andMe | rs879255500 |
SNPshot | rs879255500 |
SNPdbe | rs879255500 |
MSV3d | rs879255500 |
GWAS Ctlg | rs879255500 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255500(C;C) |
Alt | rs879255500(C;C) |
Reference | Rs879255500(G;G) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy amelogenesis imperfecta |
Variation | info |
Gene | CNNM4 |
CLNDBN | Cone-rod dystrophy amelogenesis imperfecta |
Reversed | 0 |
HGVS | NC_000002.11:g.97464793G>C |
CLNSRC | |
CLNACC | RCV000239384.1, |