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rs80358200

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358200(C;T)
Make rs80358200(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position147908217
GeneGJA8
is asnp
is mentioned by
dbSNPrs80358200
ebirs80358200
HLIrs80358200
Exacrs80358200
Varsomers80358200
Maprs80358200
PheGenIrs80358200
hapmaprs80358200
1000 genomesrs80358200
hgdprs80358200
ensemblrs80358200
gopubmedrs80358200
geneviewrs80358200
scholarrs80358200
googlers80358200
pharmgkbrs80358200
gwascentralrs80358200
openSNPrs80358200
23andMers80358200
23andMe allrs80358200
SNP Nexus

SNPshotrs80358200
SNPdbers80358200
MSV3drs80358200
GWAS Ctlgrs80358200
Max Magnitude0
OMIM600897
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80358200(T;T)
Alt rs80358200(T;T)
Reference rs80358200(C;C)
Significance Pathogenic
Disease Cataract 1
Variation info
Gene GJA8
CLNDBN Cataract 1
Reversed 0
HGVS NC_000001.10:g.147380344C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009259.4,