rs767481076
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCTTG;GCTTG) | 0 | common in clinvar |
Make rs767481076(-;-) |
Make rs767481076(-;GCTTG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 55205655 |
Gene | RAB27A |
is a | snp |
is | mentioned by |
dbSNP | rs767481076 |
dbSNP (classic) | rs767481076 |
ClinGen | rs767481076 |
ebi | rs767481076 |
HLI | rs767481076 |
Exac | rs767481076 |
Gnomad | rs767481076 |
Varsome | rs767481076 |
LitVar | rs767481076 |
Map | rs767481076 |
PheGenI | rs767481076 |
Biobank | rs767481076 |
1000 genomes | rs767481076 |
hgdp | rs767481076 |
ensembl | rs767481076 |
geneview | rs767481076 |
scholar | rs767481076 |
rs767481076 | |
pharmgkb | rs767481076 |
gwascentral | rs767481076 |
openSNP | rs767481076 |
23andMe | rs767481076 |
SNPshot | rs767481076 |
SNPdbe | rs767481076 |
MSV3d | rs767481076 |
GWAS Ctlg | rs767481076 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs767481076(-;-) |
Alt | rs767481076(-;-) |
Reference | Rs767481076(GCTTG;GCTTG) |
Significance | Probable-Pathogenic |
Disease | Griscelli syndrome type 2 |
Variation | info |
Gene | RAB27A |
CLNDBN | Griscelli syndrome type 2 |
Reversed | 0 |
HGVS | NC_000015.9:g.55497853_55497857delGCTTG |
CLNSRC | |
CLNACC | RCV000477784.1, |