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rs281865379

From SNPedia

Merged intors61752410
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865379(-;-)
Make rs281865379(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position94046951
GeneABCA4
is asnp
is mentioned by
dbSNPrs281865379
dbSNP (classic)rs281865379
ClinGenrs281865379
ebirs281865379
HLIrs281865379
Exacrs281865379
Gnomadrs281865379
Varsomers281865379
LitVarrs281865379
Maprs281865379
PheGenIrs281865379
Biobankrs281865379
1000 genomesrs281865379
hgdprs281865379
ensemblrs281865379
geneviewrs281865379
scholarrs281865379
googlers281865379
pharmgkbrs281865379
gwascentralrs281865379
openSNPrs281865379
23andMers281865379
SNPshotrs281865379
SNPdbers281865379
MSV3drs281865379
GWAS Ctlgrs281865379
StatusMerged into rs61752410
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs281865379(G;G)
Significance Pathogenic
Disease Cone-rod dystrophy 3 not provided
Variation info
Gene ABCA4
CLNDBN Cone-rod dystrophy 3 not provided
Reversed 1
HGVS NC_000001.10:g.94512505delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000008363.3, RCV000085520.1,