Have questions? Visit https://www.reddit.com/r/SNPedia

rs184394424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs184394424(C;T)
Make rs184394424(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position14842561
GeneFREM1
is asnp
is mentioned by
dbSNPrs184394424
ebirs184394424
HLIrs184394424
Exacrs184394424
Varsomers184394424
Maprs184394424
PheGenIrs184394424
hapmaprs184394424
1000 genomesrs184394424
hgdprs184394424
ensemblrs184394424
gopubmedrs184394424
geneviewrs184394424
scholarrs184394424
googlers184394424
pharmgkbrs184394424
gwascentralrs184394424
openSNPrs184394424
23andMers184394424
23andMe allrs184394424
SNP Nexus

SNPshotrs184394424
SNPdbers184394424
MSV3drs184394424
GWAS Ctlgrs184394424
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs184394424(G,T;G,T)
Alt rs184394424(G,T;G,T)
Reference rs184394424(C;C)
Significance Pathogenic
Disease Trigonocephaly 2 not provided Peters anomaly Rieger anomaly
Variation info
Gene FREM1
CLNDBN Trigonocephaly 2 not provided Peters anomaly Rieger anomaly
Reversed 0
HGVS NC_000009.11:g.14842559C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023746.2, RCV000059636.1, RCV000207399.1,


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