rs387906488
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TTTTATTTG;TTTTATTTG) | 0 | common in clinvar |
Make rs387906488(-;-) |
Make rs387906488(-;TTTTATTTG) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 11294802 |
Gene | AMELX, ARHGAP6 |
is a | snp |
is | mentioned by |
dbSNP | rs387906488 |
dbSNP (classic) | rs387906488 |
ClinGen | rs387906488 |
ebi | rs387906488 |
HLI | rs387906488 |
Exac | rs387906488 |
Gnomad | rs387906488 |
Varsome | rs387906488 |
LitVar | rs387906488 |
Map | rs387906488 |
PheGenI | rs387906488 |
Biobank | rs387906488 |
1000 genomes | rs387906488 |
hgdp | rs387906488 |
ensembl | rs387906488 |
geneview | rs387906488 |
scholar | rs387906488 |
rs387906488 | |
pharmgkb | rs387906488 |
gwascentral | rs387906488 |
openSNP | rs387906488 |
23andMe | rs387906488 |
SNPshot | rs387906488 |
SNPdbe | rs387906488 |
MSV3d | rs387906488 |
GWAS Ctlg | rs387906488 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906488(-;-) |
Alt | rs387906488(-;-) |
Reference | Rs387906488(TTTTATTTG;TTTTATTTG) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta |
Variation | info |
Gene | AMELX ARHGAP6 |
CLNDBN | Amelogenesis imperfecta, type 1E |
Reversed | 0 |
HGVS | NC_000023.10:g.11312922_11312930delTTTTATTTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011888.17, |