rs121917863
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121917863(C;T) |
Make rs121917863(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 91051468 |
Gene | KERA |
is a | snp |
is | mentioned by |
dbSNP | rs121917863 |
dbSNP (classic) | rs121917863 |
ClinGen | rs121917863 |
ebi | rs121917863 |
HLI | rs121917863 |
Exac | rs121917863 |
Gnomad | rs121917863 |
Varsome | rs121917863 |
LitVar | rs121917863 |
Map | rs121917863 |
PheGenI | rs121917863 |
Biobank | rs121917863 |
1000 genomes | rs121917863 |
hgdp | rs121917863 |
ensembl | rs121917863 |
geneview | rs121917863 |
scholar | rs121917863 |
rs121917863 | |
pharmgkb | rs121917863 |
gwascentral | rs121917863 |
openSNP | rs121917863 |
23andMe | rs121917863 |
SNPshot | rs121917863 |
SNPdbe | rs121917863 |
MSV3d | rs121917863 |
GWAS Ctlg | rs121917863 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917863(G;G) rs121917863(T;T) |
Alt | rs121917863(G;G) rs121917863(T;T) |
Reference | Rs121917863(C;C) |
Significance | Pathogenic |
Disease | Cornea plana 2 |
Variation | info |
Gene | KERA |
CLNDBN | Cornea plana 2 |
Reversed | 1 |
HGVS | NC_000012.11:g.91445245G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006895.2, |