rs376633374
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs376633374(-;-) |
Make rs376633374(-;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 81528603 |
Gene | FSCN2 |
is a | snp |
is | mentioned by |
dbSNP | rs376633374 |
dbSNP (classic) | rs376633374 |
ClinGen | rs376633374 |
ebi | rs376633374 |
HLI | rs376633374 |
Exac | rs376633374 |
Gnomad | rs376633374 |
Varsome | rs376633374 |
LitVar | rs376633374 |
Map | rs376633374 |
PheGenI | rs376633374 |
Biobank | rs376633374 |
1000 genomes | rs376633374 |
hgdp | rs376633374 |
ensembl | rs376633374 |
geneview | rs376633374 |
scholar | rs376633374 |
rs376633374 | |
pharmgkb | rs376633374 |
gwascentral | rs376633374 |
openSNP | rs376633374 |
23andMe | rs376633374 |
SNPshot | rs376633374 |
SNPdbe | rs376633374 |
MSV3d | rs376633374 |
GWAS Ctlg | rs376633374 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376633374(-;-) |
Alt | rs376633374(-;-) |
Reference | Rs376633374(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 30 not provided Leber congenital amaurosis Degenerative disorder of macula |
Variation | info |
Gene | FSCN2 |
CLNDBN | Retinitis pigmentosa 30 not provided Leber congenital amaurosis Degenerative disorder of macula |
Reversed | 0 |
HGVS | NC_000017.10:g.79495629delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003079.3, RCV000132615.1, RCV000144473.1, RCV000412604.1, |