rs121917853
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121917853(A;A) |
Make rs121917853(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 219057619 |
Gene | IHH |
is a | snp |
is | mentioned by |
dbSNP | rs121917853 |
dbSNP (classic) | rs121917853 |
ClinGen | rs121917853 |
ebi | rs121917853 |
HLI | rs121917853 |
Exac | rs121917853 |
Gnomad | rs121917853 |
Varsome | rs121917853 |
LitVar | rs121917853 |
Map | rs121917853 |
PheGenI | rs121917853 |
Biobank | rs121917853 |
1000 genomes | rs121917853 |
hgdp | rs121917853 |
ensembl | rs121917853 |
geneview | rs121917853 |
scholar | rs121917853 |
rs121917853 | |
pharmgkb | rs121917853 |
gwascentral | rs121917853 |
openSNP | rs121917853 |
23andMe | rs121917853 |
SNPshot | rs121917853 |
SNPdbe | rs121917853 |
MSV3d | rs121917853 |
GWAS Ctlg | rs121917853 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917853(A;A) |
Alt | rs121917853(A;A) |
Reference | Rs121917853(G;G) |
Significance | Pathogenic |
Disease | Brachydactyly type A1 |
Variation | info |
Gene | IHH |
CLNDBN | Brachydactyly type A1 |
Reversed | 1 |
HGVS | NC_000002.11:g.219922341C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009417.2, |