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rs281875280

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281875280(A;T)
Make rs281875280(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position14776147
GeneFREM1
is asnp
is mentioned by
dbSNPrs281875280
ebirs281875280
HLIrs281875280
Exacrs281875280
Varsomers281875280
Maprs281875280
PheGenIrs281875280
hapmaprs281875280
1000 genomesrs281875280
hgdprs281875280
ensemblrs281875280
gopubmedrs281875280
geneviewrs281875280
scholarrs281875280
googlers281875280
pharmgkbrs281875280
gwascentralrs281875280
openSNPrs281875280
23andMers281875280
23andMe allrs281875280
SNP Nexus

SNPshotrs281875280
SNPdbers281875280
MSV3drs281875280
GWAS Ctlgrs281875280
Max Magnitude0
ClinVar
Risk rs281875280(T;T)
Alt rs281875280(T;T)
Reference rs281875280(A;A)
Significance Pathogenic
Disease Trigonocephaly 2 not provided
Variation info
Gene FREM1
CLNDBN Trigonocephaly 2 not provided
Reversed 1
HGVS NC_000009.11:g.14776145T>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023745.2, RCV000059640.1,


[PMID 21931569OA-icon.png] Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.