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rs121917879

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917879(C;C)
Make rs121917879(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position44942874
GeneSIX3, SIX3-AS1
is asnp
is mentioned by
dbSNPrs121917879
dbSNP (classic)rs121917879
ClinGenrs121917879
ebirs121917879
HLIrs121917879
Exacrs121917879
Gnomadrs121917879
Varsomers121917879
LitVarrs121917879
Maprs121917879
PheGenIrs121917879
Biobankrs121917879
1000 genomesrs121917879
hgdprs121917879
ensemblrs121917879
geneviewrs121917879
scholarrs121917879
googlers121917879
pharmgkbrs121917879
gwascentralrs121917879
openSNPrs121917879
23andMers121917879
SNPshotrs121917879
SNPdbers121917879
MSV3drs121917879
GWAS Ctlgrs121917879
Max Magnitude0
ClinVar
Risk rs121917879(C;C)
Alt rs121917879(C;C)
Reference Rs121917879(G;G)
Significance Pathogenic
Disease Holoprosencephaly 2
Variation info
Gene SIX3 SIX3-AS1
CLNDBN Holoprosencephaly 2
Reversed 0
HGVS NC_000002.11:g.45170013G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006467.3,