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rs12421995

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs12421995(A;A)
Make rs12421995(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position44309759
GeneALX4
is asnp
is mentioned by
dbSNPrs12421995
ebirs12421995
HLIrs12421995
Exacrs12421995
Varsomers12421995
Maprs12421995
PheGenIrs12421995
hapmaprs12421995
1000 genomesrs12421995
hgdprs12421995
ensemblrs12421995
gopubmedrs12421995
geneviewrs12421995
scholarrs12421995
googlers12421995
pharmgkbrs12421995
gwascentralrs12421995
openSNPrs12421995
23andMers12421995
23andMe allrs12421995
SNP Nexus

SNPshotrs12421995
SNPdbers12421995
MSV3drs12421995
GWAS Ctlgrs12421995
GMAF0.3636
Max Magnitude0
Venter snp
Source plos
Gene ALX4
allele A
frequency
sift
HuRef 1103649673801
Disease Association Involved in Potocki-Shaffer syndrome (PSS) (MIM:601224). PSS is a contiguous gene syndrome caused by deletion of the 11p11.2 region.



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


GET Evidence
ALX4-P102S
aa_change Pro102Ser
aa_change_short P102S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.301747
summary



ClinVar
Risk rs12421995(A;A)
Alt rs12421995(A;A)
Reference Rs12421995(G;G)
Significance Untested
Disease
Variation info
Gene ALX4
CLNDBN
Reversed 0
HGVS NC_000011.9:g.44331309G>A
CLNSRC
CLNACC



[PMID 12774039] Clinical and molecular analysis of nine families with Adams-Oliver syndrome.