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rs121912609

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912609(C;T)
Make rs121912609(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position14824929
GeneFREM1
is asnp
is mentioned by
dbSNPrs121912609
ebirs121912609
HLIrs121912609
Exacrs121912609
Varsomers121912609
Maprs121912609
PheGenIrs121912609
hapmaprs121912609
1000 genomesrs121912609
hgdprs121912609
ensemblrs121912609
gopubmedrs121912609
geneviewrs121912609
scholarrs121912609
googlers121912609
pharmgkbrs121912609
gwascentralrs121912609
openSNPrs121912609
23andMers121912609
23andMe allrs121912609
SNP Nexus

SNPshotrs121912609
SNPdbers121912609
MSV3drs121912609
GWAS Ctlgrs121912609
Max Magnitude0
OMIM608944
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912609(T;T)
Alt rs121912609(T;T)
Reference rs121912609(C;C)
Significance Pathogenic
Disease Bifid nose with or without anorectal and renal anomalies not provided
Variation info
Gene FREM1
CLNDBN Bifid nose with or without anorectal and renal anomalies not provided
Reversed 1
HGVS NC_000009.11:g.14824927G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002066.2, RCV000059637.1,


[PMID 19732862OA-icon.png] FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.