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rs80358202

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80358202(G;G)
Make rs80358202(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position147908696
GeneGJA8
is asnp
is mentioned by
dbSNPrs80358202
ebirs80358202
HLIrs80358202
Exacrs80358202
Varsomers80358202
Maprs80358202
PheGenIrs80358202
hapmaprs80358202
1000 genomesrs80358202
hgdprs80358202
ensemblrs80358202
gopubmedrs80358202
geneviewrs80358202
scholarrs80358202
googlers80358202
pharmgkbrs80358202
gwascentralrs80358202
openSNPrs80358202
23andMers80358202
23andMe allrs80358202
SNP Nexus

SNPshotrs80358202
SNPdbers80358202
MSV3drs80358202
GWAS Ctlgrs80358202
GMAF0.001837
Max Magnitude0
OMIM600897
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80358202(A,G;A,G)
Alt rs80358202(A,G;A,G)
Reference rs80358202(T;T)
Significance Pathogenic
Disease Cataract 1
Variation info
Gene GJA8
CLNDBN Cataract 1
Reversed 0
HGVS NC_000001.10:g.147380823T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009261.3,