rs1085307111
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | 19 |
Position | 50793784 |
Gene | ACPT, LOC105372439 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307111 |
dbSNP (classic) | rs1085307111 |
ClinGen | rs1085307111 |
ebi | rs1085307111 |
HLI | rs1085307111 |
Exac | rs1085307111 |
Gnomad | rs1085307111 |
Varsome | rs1085307111 |
LitVar | rs1085307111 |
Map | rs1085307111 |
PheGenI | rs1085307111 |
Biobank | rs1085307111 |
1000 genomes | rs1085307111 |
hgdp | rs1085307111 |
ensembl | rs1085307111 |
geneview | rs1085307111 |
scholar | rs1085307111 |
rs1085307111 | |
pharmgkb | rs1085307111 |
gwascentral | rs1085307111 |
openSNP | rs1085307111 |
23andMe | rs1085307111 |
SNPshot | rs1085307111 |
SNPdbe | rs1085307111 |
MSV3d | rs1085307111 |
GWAS Ctlg | rs1085307111 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307111(T;T) |
Alt | rs1085307111(T;T) |
Reference | Rs1085307111(C;C) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta |
Variation | info |
Gene | ACPT |
CLNDBN | Amelogenesis imperfecta, type IJ |
Reversed | 0 |
HGVS | NC_000019.9:g.51297041C>T |
CLNSRC | |
CLNACC | RCV000489871.1, |