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rs281875281

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281875281(G;G)
Make rs281875281(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position14792753
GeneFREM1
is asnp
is mentioned by
dbSNPrs281875281
ebirs281875281
HLIrs281875281
Exacrs281875281
Varsomers281875281
Maprs281875281
PheGenIrs281875281
hapmaprs281875281
1000 genomesrs281875281
hgdprs281875281
ensemblrs281875281
gopubmedrs281875281
geneviewrs281875281
scholarrs281875281
googlers281875281
pharmgkbrs281875281
gwascentralrs281875281
openSNPrs281875281
23andMers281875281
23andMe allrs281875281
SNP Nexus

SNPshotrs281875281
SNPdbers281875281
MSV3drs281875281
GWAS Ctlgrs281875281
Max Magnitude0
ClinVar
Risk rs281875281(G;G)
Alt rs281875281(G;G)
Reference rs281875281(T;T)
Significance Pathogenic
Disease Marles Greenberg Persaud syndrome not provided
Variation info
Gene FREM1
CLNDBN Marles Greenberg Persaud syndrome not provided
Reversed 1
HGVS NC_000009.11:g.14792751A>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023743.2, RCV000059638.1,


[PMID 21507892OA-icon.png] Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.