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rs104893612

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893612(C;T)
Make rs104893612(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position98389696
GeneCNGA3
is asnp
is mentioned by
dbSNPrs104893612
ebirs104893612
HLIrs104893612
Exacrs104893612
Varsomers104893612
Maprs104893612
PheGenIrs104893612
hapmaprs104893612
1000 genomesrs104893612
hgdprs104893612
ensemblrs104893612
gopubmedrs104893612
geneviewrs104893612
scholarrs104893612
googlers104893612
pharmgkbrs104893612
gwascentralrs104893612
openSNPrs104893612
23andMers104893612
23andMe allrs104893612
SNP Nexus

SNPshotrs104893612
SNPdbers104893612
MSV3drs104893612
GWAS Ctlgrs104893612
Max Magnitude0
OMIM600053
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893612(T;T)
Alt rs104893612(T;T)
Reference rs104893612(C;C)
Significance Pathogenic
Disease Achromatopsia 2
Variation info
Gene CNGA3
CLNDBN Achromatopsia 2
Reversed 0
HGVS NC_000002.11:g.99006159C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010081.5,