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rs121918228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918228(C;T)
Make rs121918228(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position43038949
GeneCUL7
is asnp
is mentioned by
dbSNPrs121918228
ebirs121918228
HLIrs121918228
Exacrs121918228
Varsomers121918228
Maprs121918228
PheGenIrs121918228
hapmaprs121918228
1000 genomesrs121918228
hgdprs121918228
ensemblrs121918228
gopubmedrs121918228
geneviewrs121918228
scholarrs121918228
googlers121918228
pharmgkbrs121918228
gwascentralrs121918228
openSNPrs121918228
23andMers121918228
23andMe allrs121918228
SNP Nexus

SNPshotrs121918228
SNPdbers121918228
MSV3drs121918228
GWAS Ctlgrs121918228
GMAF0.0004591
Max Magnitude0
OMIM609577
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918228(T;T)
Alt rs121918228(T;T)
Reference rs121918228(C;C)
Significance Pathogenic
Disease Three M syndrome 1
Variation info
Gene CUL7
CLNDBN Three M syndrome 1
Reversed 1
HGVS NC_000006.11:g.43006687G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001680.2,