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rs104893967

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893967(A;G)
Make rs104893967(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position42178374
GeneGUCA1A, LOC102723882
is asnp
is mentioned by
dbSNPrs104893967
ebirs104893967
HLIrs104893967
Exacrs104893967
Varsomers104893967
Maprs104893967
PheGenIrs104893967
hapmaprs104893967
1000 genomesrs104893967
hgdprs104893967
ensemblrs104893967
gopubmedrs104893967
geneviewrs104893967
scholarrs104893967
googlers104893967
pharmgkbrs104893967
gwascentralrs104893967
openSNPrs104893967
23andMers104893967
23andMe allrs104893967
SNP Nexus

SNPshotrs104893967
SNPdbers104893967
MSV3drs104893967
GWAS Ctlgrs104893967
Max Magnitude0
OMIM600364
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893967(G;G)
Alt rs104893967(G;G)
Reference rs104893967(A;A)
Significance Pathogenic
Disease Cone dystrophy 3
Variation info
Gene GUCA1A
CLNDBN Cone dystrophy 3
Reversed 0
HGVS NC_000006.11:g.42146112A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009721.3,