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rs80358203

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358203(C;C)
Make rs80358203(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position147908023
GeneGJA8
is asnp
is mentioned by
dbSNPrs80358203
ebirs80358203
HLIrs80358203
Exacrs80358203
Varsomers80358203
Maprs80358203
PheGenIrs80358203
hapmaprs80358203
1000 genomesrs80358203
hgdprs80358203
ensemblrs80358203
gopubmedrs80358203
geneviewrs80358203
scholarrs80358203
googlers80358203
pharmgkbrs80358203
gwascentralrs80358203
openSNPrs80358203
23andMers80358203
23andMe allrs80358203
SNP Nexus

SNPshotrs80358203
SNPdbers80358203
MSV3drs80358203
GWAS Ctlgrs80358203
Max Magnitude0
OMIM600897
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80358203(C;C)
Alt rs80358203(C;C)
Reference rs80358203(G;G)
Significance Pathogenic
Disease Cataract 1
Variation info
Gene GJA8
CLNDBN Cataract 1
Reversed 0
HGVS NC_000001.10:g.147380150G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009262.3,