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rs121912795

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912795(C;T)
Make rs121912795(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position174824478
GeneCHN1
is asnp
is mentioned by
dbSNPrs121912795
ebirs121912795
HLIrs121912795
Exacrs121912795
Varsomers121912795
Maprs121912795
PheGenIrs121912795
hapmaprs121912795
1000 genomesrs121912795
hgdprs121912795
ensemblrs121912795
gopubmedrs121912795
geneviewrs121912795
scholarrs121912795
googlers121912795
pharmgkbrs121912795
gwascentralrs121912795
openSNPrs121912795
23andMers121912795
23andMe allrs121912795
SNP Nexus

SNPshotrs121912795
SNPdbers121912795
MSV3drs121912795
GWAS Ctlgrs121912795
Max Magnitude0
OMIM118423
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912795(T;T)
Alt rs121912795(T;T)
Reference rs121912795(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.175689206G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019108.27,