rs387906241
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387906241(-;-) |
Make rs387906241(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 27926246 |
Gene | OCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs387906241 |
dbSNP (classic) | rs387906241 |
ClinGen | rs387906241 |
ebi | rs387906241 |
HLI | rs387906241 |
Exac | rs387906241 |
Gnomad | rs387906241 |
Varsome | rs387906241 |
LitVar | rs387906241 |
Map | rs387906241 |
PheGenI | rs387906241 |
Biobank | rs387906241 |
1000 genomes | rs387906241 |
hgdp | rs387906241 |
ensembl | rs387906241 |
geneview | rs387906241 |
scholar | rs387906241 |
rs387906241 | |
pharmgkb | rs387906241 |
gwascentral | rs387906241 |
openSNP | rs387906241 |
23andMe | rs387906241 |
SNPshot | rs387906241 |
SNPdbe | rs387906241 |
MSV3d | rs387906241 |
GWAS Ctlg | rs387906241 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906241(-;-) |
Alt | rs387906241(-;-) |
Reference | Rs387906241(G;G) |
Significance | Pathogenic |
Disease | Tyrosinase-positive oculocutaneous albinism |
Variation | info |
Gene | OCA2 |
CLNDBN | Tyrosinase-positive oculocutaneous albinism |
Reversed | 1 |
HGVS | NC_000015.9:g.28171392delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001008.3, |