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rs121917880

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917880(C;C)
Make rs121917880(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position44942853
GeneSIX3, SIX3-AS1
is asnp
is mentioned by
dbSNPrs121917880
dbSNP (classic)rs121917880
ClinGenrs121917880
ebirs121917880
HLIrs121917880
Exacrs121917880
Gnomadrs121917880
Varsomers121917880
LitVarrs121917880
Maprs121917880
PheGenIrs121917880
Biobankrs121917880
1000 genomesrs121917880
hgdprs121917880
ensemblrs121917880
geneviewrs121917880
scholarrs121917880
googlers121917880
pharmgkbrs121917880
gwascentralrs121917880
openSNPrs121917880
23andMers121917880
SNPshotrs121917880
SNPdbers121917880
MSV3drs121917880
GWAS Ctlgrs121917880
Max Magnitude0
ClinVar
Risk rs121917880(C;C)
Alt rs121917880(C;C)
Reference Rs121917880(T;T)
Significance Pathogenic
Disease Holoprosencephaly 2
Variation info
Gene SIX3 SIX3-AS1
CLNDBN Holoprosencephaly 2
Reversed 0
HGVS NC_000002.11:g.45169992T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006468.3,