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rs104894671

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894671(A;C)
Make rs104894671(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position47836381
GeneCRX
is asnp
is mentioned by
dbSNPrs104894671
dbSNP (classic)rs104894671
ClinGenrs104894671
ebirs104894671
HLIrs104894671
Exacrs104894671
Gnomadrs104894671
Varsomers104894671
LitVarrs104894671
Maprs104894671
PheGenIrs104894671
Biobankrs104894671
1000 genomesrs104894671
hgdprs104894671
ensemblrs104894671
geneviewrs104894671
scholarrs104894671
googlers104894671
pharmgkbrs104894671
gwascentralrs104894671
openSNPrs104894671
23andMers104894671
SNPshotrs104894671
SNPdbers104894671
MSV3drs104894671
GWAS Ctlgrs104894671
Merged fromRs28939682
Max Magnitude0
OMIM602225
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894671(C;C)
Alt rs104894671(C;C)
Reference Rs104894671(A;A)
Significance Pathogenic
Disease Cone-rod dystrophy 2 not provided
Variation info
Gene CRX
CLNDBN Cone-rod dystrophy 2 not provided
Reversed 0
HGVS NC_000019.9:g.48339638A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007841.3, RCV000085995.1,