rs150232843
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs150232843(C;T) |
Make rs150232843(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 119346116 |
Gene | C1QTNF5, MFRP |
is a | snp |
is | mentioned by |
dbSNP | rs150232843 |
dbSNP (classic) | rs150232843 |
ClinGen | rs150232843 |
ebi | rs150232843 |
HLI | rs150232843 |
Exac | rs150232843 |
Gnomad | rs150232843 |
Varsome | rs150232843 |
LitVar | rs150232843 |
Map | rs150232843 |
PheGenI | rs150232843 |
Biobank | rs150232843 |
1000 genomes | rs150232843 |
hgdp | rs150232843 |
ensembl | rs150232843 |
geneview | rs150232843 |
scholar | rs150232843 |
rs150232843 | |
pharmgkb | rs150232843 |
gwascentral | rs150232843 |
openSNP | rs150232843 |
23andMe | rs150232843 |
SNPshot | rs150232843 |
SNPdbe | rs150232843 |
MSV3d | rs150232843 |
GWAS Ctlg | rs150232843 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs150232843(T;T) |
Alt | rs150232843(T;T) |
Reference | Rs150232843(C;C) |
Significance | Pathogenic |
Disease | Microphthalmia |
Variation | info |
Gene | MFRP C1QTNF5 |
CLNDBN | Microphthalmia, isolated 5 |
Reversed | 0 |
HGVS | NC_000011.9:g.119216826C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000161914.5, |