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rs61748436

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61748436(A;A)
Make rs61748436(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position47836264
GeneCRX
is asnp
is mentioned by
dbSNPrs61748436
dbSNP (classic)rs61748436
ClinGenrs61748436
ebirs61748436
HLIrs61748436
Exacrs61748436
Gnomadrs61748436
Varsomers61748436
LitVarrs61748436
Maprs61748436
PheGenIrs61748436
Biobankrs61748436
1000 genomesrs61748436
hgdprs61748436
ensemblrs61748436
geneviewrs61748436
scholarrs61748436
googlers61748436
pharmgkbrs61748436
gwascentralrs61748436
openSNPrs61748436
23andMers61748436
SNPshotrs61748436
SNPdbers61748436
MSV3drs61748436
GWAS Ctlgrs61748436
Max Magnitude0
OMIM602225
Desc
Variant0006
Relatedalso


ClinVar
Risk rs61748436(A;A)
Alt rs61748436(A;A)
Reference Rs61748436(G;G)
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.48339521G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007846.3, RCV000085990.1,