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rs121912610

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912610(A;A)
Make rs121912610(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position14784494
GeneFREM1
is asnp
is mentioned by
dbSNPrs121912610
ebirs121912610
HLIrs121912610
Exacrs121912610
Varsomers121912610
Maprs121912610
PheGenIrs121912610
hapmaprs121912610
1000 genomesrs121912610
hgdprs121912610
ensemblrs121912610
gopubmedrs121912610
geneviewrs121912610
scholarrs121912610
googlers121912610
pharmgkbrs121912610
gwascentralrs121912610
openSNPrs121912610
23andMers121912610
23andMe allrs121912610
SNP Nexus

SNPshotrs121912610
SNPdbers121912610
MSV3drs121912610
GWAS Ctlgrs121912610
Max Magnitude0
OMIM608944
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912610(A;A)
Alt rs121912610(A;A)
Reference rs121912610(G;G)
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.14784492C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002067.2, RCV000059639.1,


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