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rs121917878

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917878(C;G)
Make rs121917878(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position44942780
GeneSIX3, SIX3-AS1
is asnp
is mentioned by
dbSNPrs121917878
dbSNP (classic)rs121917878
ClinGenrs121917878
ebirs121917878
HLIrs121917878
Exacrs121917878
Gnomadrs121917878
Varsomers121917878
LitVarrs121917878
Maprs121917878
PheGenIrs121917878
Biobankrs121917878
1000 genomesrs121917878
hgdprs121917878
ensemblrs121917878
geneviewrs121917878
scholarrs121917878
googlers121917878
pharmgkbrs121917878
gwascentralrs121917878
openSNPrs121917878
23andMers121917878
SNPshotrs121917878
SNPdbers121917878
MSV3drs121917878
GWAS Ctlgrs121917878
Max Magnitude0
ClinVar
Risk rs121917878(G;G)
Alt rs121917878(G;G)
Reference Rs121917878(C;C)
Significance Pathogenic
Disease Holoprosencephaly 2
Variation info
Gene SIX3 SIX3-AS1
CLNDBN Holoprosencephaly 2
Reversed 0
HGVS NC_000002.11:g.45169919C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006466.3,