rs776256380
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs776256380(A;A) |
Make rs776256380(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | X |
Position | 85958965 |
Gene | CHM |
is a | snp |
is | mentioned by |
dbSNP | rs776256380 |
dbSNP (classic) | rs776256380 |
ClinGen | rs776256380 |
ebi | rs776256380 |
HLI | rs776256380 |
Exac | rs776256380 |
Gnomad | rs776256380 |
Varsome | rs776256380 |
LitVar | rs776256380 |
Map | rs776256380 |
PheGenI | rs776256380 |
Biobank | rs776256380 |
1000 genomes | rs776256380 |
hgdp | rs776256380 |
ensembl | rs776256380 |
geneview | rs776256380 |
scholar | rs776256380 |
rs776256380 | |
pharmgkb | rs776256380 |
gwascentral | rs776256380 |
openSNP | rs776256380 |
23andMe | rs776256380 |
SNPshot | rs776256380 |
SNPdbe | rs776256380 |
MSV3d | rs776256380 |
GWAS Ctlg | rs776256380 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs776256380(A;A) |
Alt | rs776256380(A;A) |
Reference | Rs776256380(G;G) |
Significance | Pathogenic |
Disease | Choroideremia |
Variation | info |
Gene | CHM |
CLNDBN | Choroideremia |
Reversed | 0 |
HGVS | NC_000023.10:g.85213970G>A |
CLNSRC | |
CLNACC | RCV000302207.1, |