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rs121912796

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912796(A;A)
Make rs121912796(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position174824464
GeneCHN1
is asnp
is mentioned by
dbSNPrs121912796
ebirs121912796
HLIrs121912796
Exacrs121912796
Varsomers121912796
Maprs121912796
PheGenIrs121912796
hapmaprs121912796
1000 genomesrs121912796
hgdprs121912796
ensemblrs121912796
gopubmedrs121912796
geneviewrs121912796
scholarrs121912796
googlers121912796
pharmgkbrs121912796
gwascentralrs121912796
openSNPrs121912796
23andMers121912796
23andMe allrs121912796
SNP Nexus

SNPshotrs121912796
SNPdbers121912796
MSV3drs121912796
GWAS Ctlgrs121912796
Max Magnitude0
OMIM118423
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912796(A;A)
Alt rs121912796(A;A)
Reference rs121912796(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.175689192C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019109.27,