rs387906542
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs387906542(-;GCTGCTGCCGCGGCTGCCGCTGCAGCCGCCGCCGCCGCCGCCGCGTCGTCCT) |
Make rs387906542(GCTGCTGCCGCGGCTGCCGCTGCAGCCGCCGCCGCCGCCGCCGCGTCGTCCT;GCTGCTGCCGCGGCTGCCGCTGCAGCCGCCGCCGCCGCCGCCGCGTCGTCCT) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 27199671 |
Gene | HOTTIP, HOXA13 |
is a | snp |
is | mentioned by |
dbSNP | rs387906542 |
dbSNP (classic) | rs387906542 |
ClinGen | rs387906542 |
ebi | rs387906542 |
HLI | rs387906542 |
Exac | rs387906542 |
Gnomad | rs387906542 |
Varsome | rs387906542 |
LitVar | rs387906542 |
Map | rs387906542 |
PheGenI | rs387906542 |
Biobank | rs387906542 |
1000 genomes | rs387906542 |
hgdp | rs387906542 |
ensembl | rs387906542 |
geneview | rs387906542 |
scholar | rs387906542 |
rs387906542 | |
pharmgkb | rs387906542 |
gwascentral | rs387906542 |
openSNP | rs387906542 |
23andMe | rs387906542 |
SNPshot | rs387906542 |
SNPdbe | rs387906542 |
MSV3d | rs387906542 |
GWAS Ctlg | rs387906542 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906542(GCTGCTGCCGCGGCTGCCGCTGCAGCCGCCGCCGCCGCCGCCGCGTCGTCCT;GCTGCTGCCGCGGCTGCCGCTGCAGCCGCCGCCGCCGCCGCCGCGTCGTCCT) |
Alt | rs387906542(GCTGCTGCCGCGGCTGCCGCTGCAGCCGCCGCCGCCGCCGCCGCGTCGTCCT;GCTGCTGCCGCGGCTGCCGCTGCAGCCGCCGCCGCCGCCGCCGCGTCGTCCT) |
Reference | Rs387906542(-;-) |
Significance | Pathogenic |
Disease | Hand foot uterus syndrome |
Variation | info |
Gene | HOXA13 HOTTIP |
CLNDBN | Hand foot uterus syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.27239291_27239342dup52 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016025.21, |