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rs104893619

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893619(A;A)
Make rs104893619(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position98396755
GeneCNGA3
is asnp
is mentioned by
dbSNPrs104893619
ebirs104893619
HLIrs104893619
Exacrs104893619
Varsomers104893619
Maprs104893619
PheGenIrs104893619
hapmaprs104893619
1000 genomesrs104893619
hgdprs104893619
ensemblrs104893619
gopubmedrs104893619
geneviewrs104893619
scholarrs104893619
googlers104893619
pharmgkbrs104893619
gwascentralrs104893619
openSNPrs104893619
23andMers104893619
23andMe allrs104893619
SNP Nexus

SNPshotrs104893619
SNPdbers104893619
MSV3drs104893619
GWAS Ctlgrs104893619
Max Magnitude0
OMIM600053
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893619(A;A)
Alt rs104893619(A;A)
Reference rs104893619(G;G)
Significance Pathogenic
Disease Achromatopsia 2
Variation info
Gene CNGA3
CLNDBN Achromatopsia 2
Reversed 0
HGVS NC_000002.11:g.99013218G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010088.3,