rs587776746
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AACA;AACA) | 0 | common in clinvar |
Make rs587776746(-;-) |
Make rs587776746(-;AACA) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 85878987 |
Gene | CHM |
is a | snp |
is | mentioned by |
dbSNP | rs587776746 |
dbSNP (classic) | rs587776746 |
ClinGen | rs587776746 |
ebi | rs587776746 |
HLI | rs587776746 |
Exac | rs587776746 |
Gnomad | rs587776746 |
Varsome | rs587776746 |
LitVar | rs587776746 |
Map | rs587776746 |
PheGenI | rs587776746 |
Biobank | rs587776746 |
1000 genomes | rs587776746 |
hgdp | rs587776746 |
ensembl | rs587776746 |
geneview | rs587776746 |
scholar | rs587776746 |
rs587776746 | |
pharmgkb | rs587776746 |
gwascentral | rs587776746 |
openSNP | rs587776746 |
23andMe | rs587776746 |
SNPshot | rs587776746 |
SNPdbe | rs587776746 |
MSV3d | rs587776746 |
GWAS Ctlg | rs587776746 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776746(-;-) |
Alt | rs587776746(-;-) |
Reference | Rs587776746(AACA;AACA) |
Significance | Pathogenic |
Disease | Choroideremia |
Variation | info |
Gene | CHM |
CLNDBN | Choroideremia |
Reversed | 0 |
HGVS | NC_000023.10:g.85133992_85133995delAACA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011902.8, |