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rs104893621

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893621(C;T)
Make rs104893621(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position98396476
GeneCNGA3
is asnp
is mentioned by
dbSNPrs104893621
dbSNP (classic)rs104893621
ClinGenrs104893621
ebirs104893621
HLIrs104893621
Exacrs104893621
Gnomadrs104893621
Varsomers104893621
LitVarrs104893621
Maprs104893621
PheGenIrs104893621
Biobankrs104893621
1000 genomesrs104893621
hgdprs104893621
ensemblrs104893621
geneviewrs104893621
scholarrs104893621
googlers104893621
pharmgkbrs104893621
gwascentralrs104893621
openSNPrs104893621
23andMers104893621
SNPshotrs104893621
SNPdbers104893621
MSV3drs104893621
GWAS Ctlgrs104893621
Max Magnitude0
OMIM600053
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104893621(T;T)
Alt rs104893621(T;T)
Reference Rs104893621(C;C)
Significance Pathogenic
Disease Achromatopsia 2
Variation info
Gene CNGA3
CLNDBN Achromatopsia 2
Reversed 0
HGVS NC_000002.11:g.99012939C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010090.4,