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rs121909127

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909127(A;A)
Make rs121909127(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position59269470
GeneRAX
is asnp
is mentioned by
dbSNPrs121909127
dbSNP (classic)rs121909127
ClinGenrs121909127
ebirs121909127
HLIrs121909127
Exacrs121909127
Gnomadrs121909127
Varsomers121909127
LitVarrs121909127
Maprs121909127
PheGenIrs121909127
Biobankrs121909127
1000 genomesrs121909127
hgdprs121909127
ensemblrs121909127
geneviewrs121909127
scholarrs121909127
googlers121909127
pharmgkbrs121909127
gwascentralrs121909127
openSNPrs121909127
23andMers121909127
SNPshotrs121909127
SNPdbers121909127
MSV3drs121909127
GWAS Ctlgrs121909127
Max Magnitude0
OMIM601881
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909127(A;A)
Alt rs121909127(A;A)
Reference Rs121909127(G;G)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene RAX
CLNDBN Microphthalmia, isolated 3
Reversed 1
HGVS NC_000018.9:g.56936702C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008075.4,