rs121912542
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121912542(A;C) |
Make rs121912542(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 27198251 |
Gene | HOXA13 |
is a | snp |
is | mentioned by |
dbSNP | rs121912542 |
dbSNP (classic) | rs121912542 |
ClinGen | rs121912542 |
ebi | rs121912542 |
HLI | rs121912542 |
Exac | rs121912542 |
Gnomad | rs121912542 |
Varsome | rs121912542 |
LitVar | rs121912542 |
Map | rs121912542 |
PheGenI | rs121912542 |
Biobank | rs121912542 |
1000 genomes | rs121912542 |
hgdp | rs121912542 |
ensembl | rs121912542 |
geneview | rs121912542 |
scholar | rs121912542 |
rs121912542 | |
pharmgkb | rs121912542 |
gwascentral | rs121912542 |
openSNP | rs121912542 |
23andMe | rs121912542 |
SNPshot | rs121912542 |
SNPdbe | rs121912542 |
MSV3d | rs121912542 |
GWAS Ctlg | rs121912542 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912542(C;C) |
Alt | rs121912542(C;C) |
Reference | Rs121912542(A;A) |
Significance | Pathogenic |
Disease | Hand foot uterus syndrome |
Variation | info |
Gene | HOXA13 |
CLNDBN | Hand foot uterus syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.27237870T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016021.21, |