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rs121912792

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912792(A;T)
Make rs121912792(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position174944942
GeneCHN1
is asnp
is mentioned by
dbSNPrs121912792
ebirs121912792
HLIrs121912792
Exacrs121912792
Varsomers121912792
Maprs121912792
PheGenIrs121912792
hapmaprs121912792
1000 genomesrs121912792
hgdprs121912792
ensemblrs121912792
gopubmedrs121912792
geneviewrs121912792
scholarrs121912792
googlers121912792
pharmgkbrs121912792
gwascentralrs121912792
openSNPrs121912792
23andMers121912792
23andMe allrs121912792
SNP Nexus

SNPshotrs121912792
SNPdbers121912792
MSV3drs121912792
GWAS Ctlgrs121912792
Max Magnitude0
OMIM118423
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912792(G,T;G,T)
Alt rs121912792(G,T;G,T)
Reference rs121912792(A;A)
Significance Pathogenic
Disease Duane syndrome type 2
Variation info
Gene CHN1
CLNDBN Duane syndrome type 2
Reversed 1
HGVS NC_000002.11:g.175809670T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019105.23,