rs104894733
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894733(C;T) |
Make rs104894733(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 11298243 |
Gene | AMELX, ARHGAP6 |
is a | snp |
is | mentioned by |
dbSNP | rs104894733 |
dbSNP (classic) | rs104894733 |
ClinGen | rs104894733 |
ebi | rs104894733 |
HLI | rs104894733 |
Exac | rs104894733 |
Gnomad | rs104894733 |
Varsome | rs104894733 |
LitVar | rs104894733 |
Map | rs104894733 |
PheGenI | rs104894733 |
Biobank | rs104894733 |
1000 genomes | rs104894733 |
hgdp | rs104894733 |
ensembl | rs104894733 |
geneview | rs104894733 |
scholar | rs104894733 |
rs104894733 | |
pharmgkb | rs104894733 |
gwascentral | rs104894733 |
openSNP | rs104894733 |
23andMe | rs104894733 |
SNPshot | rs104894733 |
SNPdbe | rs104894733 |
MSV3d | rs104894733 |
GWAS Ctlg | rs104894733 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894733(T;T) |
Alt | rs104894733(T;T) |
Reference | Rs104894733(C;C) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta |
Variation | info |
Gene | AMELX ARHGAP6 |
CLNDBN | Amelogenesis imperfecta, type 1E |
Reversed | 0 |
HGVS | NC_000023.10:g.11316363C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011890.5, |