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rs104893615

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893615(A;A)
Make rs104893615(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position98396839
GeneCNGA3
is asnp
is mentioned by
dbSNPrs104893615
dbSNP (classic)rs104893615
ClinGenrs104893615
ebirs104893615
HLIrs104893615
Exacrs104893615
Gnomadrs104893615
Varsomers104893615
LitVarrs104893615
Maprs104893615
PheGenIrs104893615
Biobankrs104893615
1000 genomesrs104893615
hgdprs104893615
ensemblrs104893615
geneviewrs104893615
scholarrs104893615
googlers104893615
pharmgkbrs104893615
gwascentralrs104893615
openSNPrs104893615
23andMers104893615
SNPshotrs104893615
SNPdbers104893615
MSV3drs104893615
GWAS Ctlgrs104893615
Max Magnitude0
OMIM600053
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893615(A;A)
Alt rs104893615(A;A)
Reference Rs104893615(G;G)
Significance Pathogenic
Disease Achromatopsia 2 not specified
Variation info
Gene CNGA3
CLNDBN Achromatopsia 2 not specified
Reversed 0
HGVS NC_000002.11:g.99013302G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010084.7, RCV000169654.1,