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rs121912798

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912798(A;A)
Make rs121912798(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position174811538
GeneCHN1
is asnp
is mentioned by
dbSNPrs121912798
ebirs121912798
HLIrs121912798
Exacrs121912798
Varsomers121912798
Maprs121912798
PheGenIrs121912798
hapmaprs121912798
1000 genomesrs121912798
hgdprs121912798
ensemblrs121912798
gopubmedrs121912798
geneviewrs121912798
scholarrs121912798
googlers121912798
pharmgkbrs121912798
gwascentralrs121912798
openSNPrs121912798
23andMers121912798
23andMe allrs121912798
SNP Nexus

SNPshotrs121912798
SNPdbers121912798
MSV3drs121912798
GWAS Ctlgrs121912798
Max Magnitude0
OMIM118423
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912798(A;A)
Alt rs121912798(A;A)
Reference rs121912798(G;G)
Significance Pathogenic
Disease Duane syndrome type 2
Variation info
Gene CHN1
CLNDBN Duane syndrome type 2
Reversed 1
HGVS NC_000002.11:g.175676266C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019111.23,