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rs4242182

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(T;T) 0 common in clinvar
Make rs4242182(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position174729165
GeneMSX2
is asnp
is mentioned by
dbSNPrs4242182
ebirs4242182
HLIrs4242182
Exacrs4242182
Varsomers4242182
Maprs4242182
PheGenIrs4242182
hapmaprs4242182
1000 genomesrs4242182
hgdprs4242182
ensemblrs4242182
gopubmedrs4242182
geneviewrs4242182
scholarrs4242182
googlers4242182
pharmgkbrs4242182
gwascentralrs4242182
openSNPrs4242182
23andMers4242182
23andMe allrs4242182
SNP Nexus

SNPshotrs4242182
SNPdbers4242182
MSV3drs4242182
GWAS Ctlgrs4242182
GMAF0.2135
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene MSX2
allele C
frequency 0.85
sift TOLERATED
HuRef 1103654298481
Disease Association Defects in MSX2 are the cause of craniosynostosis type 2 (CRS2) (MIM:604757); also known as craniosynostosis Boston-type (CSB). CRS2 is characterized by the premature fusion of calvarial sutures. This developmental anomaly causes abnormal skull shape.



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


GET Evidence
MSX2-M129T
aa_change Met129Thr
aa_change_short M129T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.753393
summary



ClinVar
Risk rs4242182(C;C)
Alt rs4242182(C;C)
Reference rs4242182(T;T)
Significance Untested
Disease
Variation info
Gene MSX2
CLNDBN
Reversed 0
HGVS NC_000005.9:g.174156168T>C
CLNSRC
CLNACC



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