rs1057517672
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057517672(C;C) |
Make rs1057517672(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 91234830 |
Gene | GPR68 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517672 |
dbSNP (classic) | rs1057517672 |
ClinGen | rs1057517672 |
ebi | rs1057517672 |
HLI | rs1057517672 |
Exac | rs1057517672 |
Gnomad | rs1057517672 |
Varsome | rs1057517672 |
LitVar | rs1057517672 |
Map | rs1057517672 |
PheGenI | rs1057517672 |
Biobank | rs1057517672 |
1000 genomes | rs1057517672 |
hgdp | rs1057517672 |
ensembl | rs1057517672 |
geneview | rs1057517672 |
scholar | rs1057517672 |
rs1057517672 | |
pharmgkb | rs1057517672 |
gwascentral | rs1057517672 |
openSNP | rs1057517672 |
23andMe | rs1057517672 |
SNPshot | rs1057517672 |
SNPdbe | rs1057517672 |
MSV3d | rs1057517672 |
GWAS Ctlg | rs1057517672 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517672(C;C) |
Alt | rs1057517672(C;C) |
Reference | Rs1057517672(T;T) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta |
Variation | info |
Gene | GPR68 |
CLNDBN | Amelogenesis imperfecta, hypomaturation type IIA6 |
Reversed | 1 |
HGVS | NC_000014.8:g.91701174A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000412503.1, |