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rs104893613

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893613(C;T)
Make rs104893613(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position98396017
GeneCNGA3
is asnp
is mentioned by
dbSNPrs104893613
ebirs104893613
HLIrs104893613
Exacrs104893613
Varsomers104893613
Maprs104893613
PheGenIrs104893613
hapmaprs104893613
1000 genomesrs104893613
hgdprs104893613
ensemblrs104893613
gopubmedrs104893613
geneviewrs104893613
scholarrs104893613
googlers104893613
pharmgkbrs104893613
gwascentralrs104893613
openSNPrs104893613
23andMers104893613
23andMe allrs104893613
SNP Nexus

SNPshotrs104893613
SNPdbers104893613
MSV3drs104893613
GWAS Ctlgrs104893613
Max Magnitude0
OMIM600053
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893613(T;T)
Alt rs104893613(T;T)
Reference rs104893613(C;C)
Significance Pathogenic
Disease Achromatopsia 2
Variation info
Gene CNGA3
CLNDBN Achromatopsia 2
Reversed 0
HGVS NC_000002.11:g.99012480C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010082.3,