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rs121912794

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912794(C;C)
Make rs121912794(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position174877962
GeneCHN1
is asnp
is mentioned by
dbSNPrs121912794
ebirs121912794
HLIrs121912794
Exacrs121912794
Varsomers121912794
Maprs121912794
PheGenIrs121912794
hapmaprs121912794
1000 genomesrs121912794
hgdprs121912794
ensemblrs121912794
gopubmedrs121912794
geneviewrs121912794
scholarrs121912794
googlers121912794
pharmgkbrs121912794
gwascentralrs121912794
openSNPrs121912794
23andMers121912794
23andMe allrs121912794
SNP Nexus

SNPshotrs121912794
SNPdbers121912794
MSV3drs121912794
GWAS Ctlgrs121912794
Max Magnitude0
OMIM118423
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912794(C;C)
Alt rs121912794(C;C)
Reference rs121912794(T;T)
Significance Pathogenic
Disease Duane syndrome type 2
Variation info
Gene CHN1
CLNDBN Duane syndrome type 2
Reversed 1
HGVS NC_000002.11:g.175742690A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019107.27,