rs121917852
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121917852(A;A) |
Make rs121917852(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 219060185 |
Gene | IHH, MIR3131 |
is a | snp |
is | mentioned by |
dbSNP | rs121917852 |
dbSNP (classic) | rs121917852 |
ClinGen | rs121917852 |
ebi | rs121917852 |
HLI | rs121917852 |
Exac | rs121917852 |
Gnomad | rs121917852 |
Varsome | rs121917852 |
LitVar | rs121917852 |
Map | rs121917852 |
PheGenI | rs121917852 |
Biobank | rs121917852 |
1000 genomes | rs121917852 |
hgdp | rs121917852 |
ensembl | rs121917852 |
geneview | rs121917852 |
scholar | rs121917852 |
rs121917852 | |
pharmgkb | rs121917852 |
gwascentral | rs121917852 |
openSNP | rs121917852 |
23andMe | rs121917852 |
SNPshot | rs121917852 |
SNPdbe | rs121917852 |
MSV3d | rs121917852 |
GWAS Ctlg | rs121917852 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917852(A;A) |
Alt | rs121917852(A;A) |
Reference | Rs121917852(G;G) |
Significance | Pathogenic |
Disease | Brachydactyly type A1 |
Variation | info |
Gene | IHH MIR3131 |
CLNDBN | Brachydactyly type A1 |
Reversed | 1 |
HGVS | NC_000002.11:g.219924907C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009416.3, |