rs121917869
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121917869(A;G) |
Make rs121917869(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 56453715 |
Gene | MIP |
is a | snp |
is | mentioned by |
dbSNP | rs121917869 |
dbSNP (classic) | rs121917869 |
ClinGen | rs121917869 |
ebi | rs121917869 |
HLI | rs121917869 |
Exac | rs121917869 |
Gnomad | rs121917869 |
Varsome | rs121917869 |
LitVar | rs121917869 |
Map | rs121917869 |
PheGenI | rs121917869 |
Biobank | rs121917869 |
1000 genomes | rs121917869 |
hgdp | rs121917869 |
ensembl | rs121917869 |
geneview | rs121917869 |
scholar | rs121917869 |
rs121917869 | |
pharmgkb | rs121917869 |
gwascentral | rs121917869 |
openSNP | rs121917869 |
23andMe | rs121917869 |
SNPshot | rs121917869 |
SNPdbe | rs121917869 |
MSV3d | rs121917869 |
GWAS Ctlg | rs121917869 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917869(C;C) rs121917869(G;G) |
Alt | rs121917869(C;C) rs121917869(G;G) |
Reference | Rs121917869(A;A) |
Significance | Pathogenic |
Disease | Cataract 15 not provided |
Variation | info |
Gene | MIP |
CLNDBN | Cataract 15, multiple types not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.56847499T>C; NC_000012.11:g.56847499T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015429.26, RCV000435556.1, |