Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912793

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912793(G;G)
Make rs121912793(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position174878011
GeneCHN1
is asnp
is mentioned by
dbSNPrs121912793
ebirs121912793
HLIrs121912793
Exacrs121912793
Varsomers121912793
Maprs121912793
PheGenIrs121912793
hapmaprs121912793
1000 genomesrs121912793
hgdprs121912793
ensemblrs121912793
gopubmedrs121912793
geneviewrs121912793
scholarrs121912793
googlers121912793
pharmgkbrs121912793
gwascentralrs121912793
openSNPrs121912793
23andMers121912793
23andMe allrs121912793
SNP Nexus

SNPshotrs121912793
SNPdbers121912793
MSV3drs121912793
GWAS Ctlgrs121912793
Max Magnitude0
OMIM118423
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912793(G;G)
Alt rs121912793(G;G)
Reference rs121912793(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.175742739A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019106.27,