rs386834241
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs386834241(-;A) |
Make rs386834241(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 88429395 |
Gene | SPATA7 |
is a | snp |
is | mentioned by |
dbSNP | rs386834241 |
dbSNP (classic) | rs386834241 |
ClinGen | rs386834241 |
ebi | rs386834241 |
HLI | rs386834241 |
Exac | rs386834241 |
Gnomad | rs386834241 |
Varsome | rs386834241 |
LitVar | rs386834241 |
Map | rs386834241 |
PheGenI | rs386834241 |
Biobank | rs386834241 |
1000 genomes | rs386834241 |
hgdp | rs386834241 |
ensembl | rs386834241 |
geneview | rs386834241 |
scholar | rs386834241 |
rs386834241 | |
pharmgkb | rs386834241 |
gwascentral | rs386834241 |
openSNP | rs386834241 |
23andMe | rs386834241 |
SNPshot | rs386834241 |
SNPdbe | rs386834241 |
MSV3d | rs386834241 |
GWAS Ctlg | rs386834241 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386834241(A;A) |
Alt | rs386834241(A;A) |
Reference | Rs386834241(-;-) |
Significance | Pathogenic |
Disease | Leber congenital amaurosis 3 |
Variation | info |
Gene | SPATA7 |
CLNDBN | Leber congenital amaurosis 3 |
Reversed | 0 |
HGVS | NC_000014.8:g.88895739dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001461.5, |