rs121912543
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121912543(A;A) |
Make rs121912543(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 74259621 |
Gene | VSX2 |
is a | snp |
is | mentioned by |
dbSNP | rs121912543 |
dbSNP (classic) | rs121912543 |
ClinGen | rs121912543 |
ebi | rs121912543 |
HLI | rs121912543 |
Exac | rs121912543 |
Gnomad | rs121912543 |
Varsome | rs121912543 |
LitVar | rs121912543 |
Map | rs121912543 |
PheGenI | rs121912543 |
Biobank | rs121912543 |
1000 genomes | rs121912543 |
hgdp | rs121912543 |
ensembl | rs121912543 |
geneview | rs121912543 |
scholar | rs121912543 |
rs121912543 | |
pharmgkb | rs121912543 |
gwascentral | rs121912543 |
openSNP | rs121912543 |
23andMe | rs121912543 |
SNPshot | rs121912543 |
SNPdbe | rs121912543 |
MSV3d | rs121912543 |
GWAS Ctlg | rs121912543 |
Merged from | Rs121912544 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912543(A;A) rs121912543(C;C) |
Alt | rs121912543(A;A) rs121912543(C;C) |
Reference | Rs121912543(G;G) |
Significance | Pathogenic |
Disease | Microphthalmia not provided |
Variation | info |
Gene | VSX2 |
CLNDBN | Microphthalmia, cataracts, and iris abnormalities Microphthalmia, isolated 2 not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.74726324G>A; NC_000014.8:g.74726324G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015985.25, RCV000015986.25, RCV000015987.25, RCV000413928.1, |