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rs869320710

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869320710(C;C)
Make rs869320710(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position42178398
GeneGUCA1A
is asnp
is mentioned by
dbSNPrs869320710
ebirs869320710
HLIrs869320710
Exacrs869320710
Varsomers869320710
Maprs869320710
PheGenIrs869320710
hapmaprs869320710
1000 genomesrs869320710
hgdprs869320710
ensemblrs869320710
gopubmedrs869320710
geneviewrs869320710
scholarrs869320710
googlers869320710
pharmgkbrs869320710
gwascentralrs869320710
openSNPrs869320710
23andMers869320710
23andMe allrs869320710
SNP Nexus

SNPshotrs869320710
SNPdbers869320710
MSV3drs869320710
GWAS Ctlgrs869320710
Max Magnitude0
ClinVar
Risk rs869320710(C;C)
Alt rs869320710(C;C)
Reference rs869320710(T;T)
Significance Pathogenic
Disease Cone dystrophy 3
Variation info
Gene GUCA1A
CLNDBN Cone dystrophy 3
Reversed 0
HGVS NC_000006.11:g.42146136T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000210873.1,