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rs387906599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906599(C;T)
Make rs387906599(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position174877967
GeneCHN1
is asnp
is mentioned by
dbSNPrs387906599
ebirs387906599
HLIrs387906599
Exacrs387906599
Varsomers387906599
Maprs387906599
PheGenIrs387906599
hapmaprs387906599
1000 genomesrs387906599
hgdprs387906599
ensemblrs387906599
gopubmedrs387906599
geneviewrs387906599
scholarrs387906599
googlers387906599
pharmgkbrs387906599
gwascentralrs387906599
openSNPrs387906599
23andMers387906599
23andMe allrs387906599
SNP Nexus

SNPshotrs387906599
SNPdbers387906599
MSV3drs387906599
GWAS Ctlgrs387906599
Max Magnitude0
ClinVar
Risk rs387906599(T;T)
Alt rs387906599(T;T)
Reference rs387906599(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.175742695G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022463.27,