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rs121434631

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121434631(C;T)
Make rs121434631(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position42179248
GeneGUCA1A
is asnp
is mentioned by
dbSNPrs121434631
ebirs121434631
HLIrs121434631
Exacrs121434631
Varsomers121434631
Maprs121434631
PheGenIrs121434631
hapmaprs121434631
1000 genomesrs121434631
hgdprs121434631
ensemblrs121434631
gopubmedrs121434631
geneviewrs121434631
scholarrs121434631
googlers121434631
pharmgkbrs121434631
gwascentralrs121434631
openSNPrs121434631
23andMers121434631
23andMe allrs121434631
SNP Nexus

SNPshotrs121434631
SNPdbers121434631
MSV3drs121434631
GWAS Ctlgrs121434631
Max Magnitude0
OMIM600364
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434631(G,T;G,T)
Alt rs121434631(G,T;G,T)
Reference rs121434631(C;C)
Significance Pathogenic
Disease Cone dystrophy 3
Variation info
Gene GUCA1A
CLNDBN Cone dystrophy 3
Reversed 0
HGVS NC_000006.11:g.42146986C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032613.3,