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rs104893620

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893620(C;T)
Make rs104893620(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position98395999
GeneCNGA3
is asnp
is mentioned by
dbSNPrs104893620
ebirs104893620
HLIrs104893620
Exacrs104893620
Varsomers104893620
Maprs104893620
PheGenIrs104893620
hapmaprs104893620
1000 genomesrs104893620
hgdprs104893620
ensemblrs104893620
gopubmedrs104893620
geneviewrs104893620
scholarrs104893620
googlers104893620
pharmgkbrs104893620
gwascentralrs104893620
openSNPrs104893620
23andMers104893620
23andMe allrs104893620
SNP Nexus

SNPshotrs104893620
SNPdbers104893620
MSV3drs104893620
GWAS Ctlgrs104893620
Max Magnitude0
OMIM600053
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104893620(T;T)
Alt rs104893620(T;T)
Reference rs104893620(C;C)
Significance Pathogenic
Disease Achromatopsia 2
Variation info
Gene CNGA3
CLNDBN Achromatopsia 2
Reversed 0
HGVS NC_000002.11:g.99012462C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010089.5,