rs786205142
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AACCG;AACCG) | 0 | common in clinvar |
Make rs786205142(-;-) |
Make rs786205142(-;AACCG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 60509930 |
Gene | SIX6 |
is a | snp |
is | mentioned by |
dbSNP | rs786205142 |
dbSNP (classic) | rs786205142 |
ClinGen | rs786205142 |
ebi | rs786205142 |
HLI | rs786205142 |
Exac | rs786205142 |
Gnomad | rs786205142 |
Varsome | rs786205142 |
LitVar | rs786205142 |
Map | rs786205142 |
PheGenI | rs786205142 |
Biobank | rs786205142 |
1000 genomes | rs786205142 |
hgdp | rs786205142 |
ensembl | rs786205142 |
geneview | rs786205142 |
scholar | rs786205142 |
rs786205142 | |
pharmgkb | rs786205142 |
gwascentral | rs786205142 |
openSNP | rs786205142 |
23andMe | rs786205142 |
SNPshot | rs786205142 |
SNPdbe | rs786205142 |
MSV3d | rs786205142 |
GWAS Ctlg | rs786205142 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205142(-;-) |
Alt | rs786205142(-;-) |
Reference | Rs786205142(AACCG;AACCG) |
Significance | Pathogenic |
Disease | Cataract not provided |
Variation | info |
Gene | SIX6 |
CLNDBN | Cataract, microphthalmia and nystagmus not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.60976648_60976652delAACCG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000169773.4, RCV000414384.1, |