rs886043716
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGTA;AGTA) | 0 | common in clinvar |
Chromosome | X |
Position | 85963715 |
Gene | CHM |
is a | snp |
is | mentioned by |
dbSNP | rs886043716 |
dbSNP (classic) | rs886043716 |
ClinGen | rs886043716 |
ebi | rs886043716 |
HLI | rs886043716 |
Exac | rs886043716 |
Gnomad | rs886043716 |
Varsome | rs886043716 |
LitVar | rs886043716 |
Map | rs886043716 |
PheGenI | rs886043716 |
Biobank | rs886043716 |
1000 genomes | rs886043716 |
hgdp | rs886043716 |
ensembl | rs886043716 |
geneview | rs886043716 |
scholar | rs886043716 |
rs886043716 | |
pharmgkb | rs886043716 |
gwascentral | rs886043716 |
openSNP | rs886043716 |
23andMe | rs886043716 |
SNPshot | rs886043716 |
SNPdbe | rs886043716 |
MSV3d | rs886043716 |
GWAS Ctlg | rs886043716 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043716(-;-) |
Alt | rs886043716(-;-) |
Reference | Rs886043716(AGTA;AGTA) |
Significance | Pathogenic |
Disease | Choroideremia |
Variation | info |
Gene | CHM |
CLNDBN | Choroideremia |
Reversed | 0 |
HGVS | NC_000023.10:g.85218720_85218723delAGTA |
CLNSRC | |
CLNACC | RCV000374975.1, |