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rs869320709

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869320709(C;T)
Make rs869320709(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position42178328
GeneGUCA1A
is asnp
is mentioned by
dbSNPrs869320709
ebirs869320709
HLIrs869320709
Exacrs869320709
Varsomers869320709
Maprs869320709
PheGenIrs869320709
hapmaprs869320709
1000 genomesrs869320709
hgdprs869320709
ensemblrs869320709
gopubmedrs869320709
geneviewrs869320709
scholarrs869320709
googlers869320709
pharmgkbrs869320709
gwascentralrs869320709
openSNPrs869320709
23andMers869320709
23andMe allrs869320709
SNP Nexus

SNPshotrs869320709
SNPdbers869320709
MSV3drs869320709
GWAS Ctlgrs869320709
Max Magnitude0
ClinVar
Risk rs869320709(T;T)
Alt rs869320709(T;T)
Reference rs869320709(C;C)
Significance Pathogenic
Disease Cone dystrophy 3
Variation info
Gene GUCA1A
CLNDBN Cone dystrophy 3
Reversed 0
HGVS NC_000006.11:g.42146066C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210865.1,