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rs104894193

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Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894193(A;A)
Make rs104894193(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position44275472
GeneALX4
is asnp
is mentioned by
dbSNPrs104894193
ebirs104894193
HLIrs104894193
Exacrs104894193
Varsomers104894193
Maprs104894193
PheGenIrs104894193
hapmaprs104894193
1000 genomesrs104894193
hgdprs104894193
ensemblrs104894193
gopubmedrs104894193
geneviewrs104894193
scholarrs104894193
googlers104894193
pharmgkbrs104894193
gwascentralrs104894193
openSNPrs104894193
23andMers104894193
23andMe allrs104894193
SNP Nexus

SNPshotrs104894193
SNPdbers104894193
MSV3drs104894193
GWAS Ctlgrs104894193
Max Magnitude0
OMIM605420
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894193(A;A)
Alt rs104894193(A;A)
Reference rs104894193(G;G)
Significance Pathogenic
Disease Parietal foramina 2
Variation info
Gene ALX4
CLNDBN Parietal foramina 2
Reversed 1
HGVS NC_000011.9:g.44297022C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005318.5,


[PMID 16319823OA-icon.png] Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.