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rs104893617

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893617(A;A)
Make rs104893617(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position98396811
GeneCNGA3
is asnp
is mentioned by
dbSNPrs104893617
ebirs104893617
HLIrs104893617
Exacrs104893617
Varsomers104893617
Maprs104893617
PheGenIrs104893617
hapmaprs104893617
1000 genomesrs104893617
hgdprs104893617
ensemblrs104893617
gopubmedrs104893617
geneviewrs104893617
scholarrs104893617
googlers104893617
pharmgkbrs104893617
gwascentralrs104893617
openSNPrs104893617
23andMers104893617
23andMe allrs104893617
SNP Nexus

SNPshotrs104893617
SNPdbers104893617
MSV3drs104893617
GWAS Ctlgrs104893617
Max Magnitude0
OMIM600053
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893617(A,T;A,T)
Alt rs104893617(A,T;A,T)
Reference rs104893617(C;C)
Significance Pathogenic
Disease Achromatopsia 2
Variation info
Gene CNGA3
CLNDBN Achromatopsia 2
Reversed 0
HGVS NC_000002.11:g.99013274C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010086.4,