rs779823931
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs779823931(A;A) |
Make rs779823931(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 50791749 |
Gene | ACPT, LOC105372439 |
is a | snp |
is | mentioned by |
dbSNP | rs779823931 |
dbSNP (classic) | rs779823931 |
ClinGen | rs779823931 |
ebi | rs779823931 |
HLI | rs779823931 |
Exac | rs779823931 |
Gnomad | rs779823931 |
Varsome | rs779823931 |
LitVar | rs779823931 |
Map | rs779823931 |
PheGenI | rs779823931 |
Biobank | rs779823931 |
1000 genomes | rs779823931 |
hgdp | rs779823931 |
ensembl | rs779823931 |
geneview | rs779823931 |
scholar | rs779823931 |
rs779823931 | |
pharmgkb | rs779823931 |
gwascentral | rs779823931 |
openSNP | rs779823931 |
23andMe | rs779823931 |
SNPshot | rs779823931 |
SNPdbe | rs779823931 |
MSV3d | rs779823931 |
GWAS Ctlg | rs779823931 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779823931(A;A) |
Alt | rs779823931(A;A) |
Reference | Rs779823931(G;G) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta |
Variation | info |
Gene | ACPT |
CLNDBN | Amelogenesis imperfecta, type IJ |
Reversed | 0 |
HGVS | NC_000019.9:g.51295006G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415549.1, |