rs12421995
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs12421995(A;A) |
Make rs12421995(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 44309759 |
Gene | ALX4 |
is a | snp |
is | mentioned by |
dbSNP | rs12421995 |
dbSNP (classic) | rs12421995 |
ClinGen | rs12421995 |
ebi | rs12421995 |
HLI | rs12421995 |
Exac | rs12421995 |
Gnomad | rs12421995 |
Varsome | rs12421995 |
LitVar | rs12421995 |
Map | rs12421995 |
PheGenI | rs12421995 |
Biobank | rs12421995 |
1000 genomes | rs12421995 |
hgdp | rs12421995 |
ensembl | rs12421995 |
geneview | rs12421995 |
scholar | rs12421995 |
rs12421995 | |
pharmgkb | rs12421995 |
gwascentral | rs12421995 |
openSNP | rs12421995 |
23andMe | rs12421995 |
SNPshot | rs12421995 |
SNPdbe | rs12421995 |
MSV3d | rs12421995 |
GWAS Ctlg | rs12421995 |
GMAF | 0.3636 |
Max Magnitude | 0 |
[PMID 16319823] Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
ClinVar | |
---|---|
Risk | rs12421995(A;A) |
Alt | rs12421995(A;A) |
Reference | Rs12421995(G;G) |
Significance | Non-pathogenic |
Disease | Enlarged parietal foramina |
Variation | info |
Gene | ALX4 |
CLNDBN | Enlarged parietal foramina |
Reversed | 0 |
HGVS | NC_000011.9:g.44331309G>A |
CLNSRC | |
CLNACC | RCV000282185.1, |
[PMID 12774039] Clinical and molecular analysis of nine families with Adams-Oliver syndrome.