rs587776952
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587776952(C;T) |
Make rs587776952(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 76557271 |
Gene | C10orf11 |
is a | snp |
is | mentioned by |
dbSNP | rs587776952 |
dbSNP (classic) | rs587776952 |
ClinGen | rs587776952 |
ebi | rs587776952 |
HLI | rs587776952 |
Exac | rs587776952 |
Gnomad | rs587776952 |
Varsome | rs587776952 |
LitVar | rs587776952 |
Map | rs587776952 |
PheGenI | rs587776952 |
Biobank | rs587776952 |
1000 genomes | rs587776952 |
hgdp | rs587776952 |
ensembl | rs587776952 |
geneview | rs587776952 |
scholar | rs587776952 |
rs587776952 | |
pharmgkb | rs587776952 |
gwascentral | rs587776952 |
openSNP | rs587776952 |
23andMe | rs587776952 |
SNPshot | rs587776952 |
SNPdbe | rs587776952 |
MSV3d | rs587776952 |
GWAS Ctlg | rs587776952 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776952(T;T) |
Alt | rs587776952(T;T) |
Reference | Rs587776952(C;C) |
Significance | Pathogenic |
Disease | Albinism |
Variation | info |
Gene | C10orf11 |
CLNDBN | Albinism, oculocutaneous, type VII |
Reversed | 0 |
HGVS | NC_000010.10:g.78317029C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000034833.4, |