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rs121912797

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912797(A;A)
Make rs121912797(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position174812440
GeneCHN1
is asnp
is mentioned by
dbSNPrs121912797
ebirs121912797
HLIrs121912797
Exacrs121912797
Varsomers121912797
Maprs121912797
PheGenIrs121912797
hapmaprs121912797
1000 genomesrs121912797
hgdprs121912797
ensemblrs121912797
gopubmedrs121912797
geneviewrs121912797
scholarrs121912797
googlers121912797
pharmgkbrs121912797
gwascentralrs121912797
openSNPrs121912797
23andMers121912797
23andMe allrs121912797
SNP Nexus

SNPshotrs121912797
SNPdbers121912797
MSV3drs121912797
GWAS Ctlgrs121912797
Max Magnitude0
OMIM118423
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912797(A;A)
Alt rs121912797(A;A)
Reference rs121912797(C;C)
Significance Pathogenic
Disease Duane syndrome type 2
Variation info
Gene CHN1
CLNDBN Duane syndrome type 2
Reversed 1
HGVS NC_000002.11:g.175677168G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019110.27,