rs121912541
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121912541(G;T) |
Make rs121912541(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 176093573 |
Gene | HOXD13 |
is a | snp |
is | mentioned by |
dbSNP | rs121912541 |
dbSNP (classic) | rs121912541 |
ClinGen | rs121912541 |
ebi | rs121912541 |
HLI | rs121912541 |
Exac | rs121912541 |
Gnomad | rs121912541 |
Varsome | rs121912541 |
LitVar | rs121912541 |
Map | rs121912541 |
PheGenI | rs121912541 |
Biobank | rs121912541 |
1000 genomes | rs121912541 |
hgdp | rs121912541 |
ensembl | rs121912541 |
geneview | rs121912541 |
scholar | rs121912541 |
rs121912541 | |
pharmgkb | rs121912541 |
gwascentral | rs121912541 |
openSNP | rs121912541 |
23andMe | rs121912541 |
SNPshot | rs121912541 |
SNPdbe | rs121912541 |
MSV3d | rs121912541 |
GWAS Ctlg | rs121912541 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912541(C;C) rs121912541(T;T) |
Alt | rs121912541(C;C) rs121912541(T;T) |
Reference | Rs121912541(G;G) |
Significance | Pathogenic |
Disease | Synpolydactyly 1 |
Variation | info |
Gene | HOXD13 |
CLNDBN | Synpolydactyly 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.176958301G>C; NC_000002.11:g.176958301G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210946.2, RCV000016004.26, |