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rs281865175

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGGGCAACTC;AGGGCAACTC) 0 common in clinvar
(GGGCAACTCA;GGGCAACTCA) 0 common in clinvar
Make rs281865175(-;-)
Make rs281865175(-;GGGCAACTCA)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position197477776
GeneCRB1
is asnp
is mentioned by
dbSNPrs281865175
dbSNP (old)rs281865175
ClinGenrs281865175
ebirs281865175
HLIrs281865175
Exacrs281865175
Gnomadrs281865175
Varsomers281865175
Maprs281865175
PheGenIrs281865175
Biobankrs281865175
1000 genomesrs281865175
hgdprs281865175
ensemblrs281865175
gopubmedrs281865175
geneviewrs281865175
scholarrs281865175
googlers281865175
pharmgkbrs281865175
gwascentralrs281865175
openSNPrs281865175
23andMers281865175
23andMe allrs281865175
SNP Nexus

SNPshotrs281865175
SNPdbers281865175
MSV3drs281865175
GWAS Ctlgrs281865175
Merged fromRs786200886
Max Magnitude0
ClinVar
Risk rs281865175(-;-) rs281865175(CAACTCAGGG;CAACTCAGGG)
Alt rs281865175(-;-) rs281865175(CAACTCAGGG;CAACTCAGGG)
Reference Rs281865175(GGGCAACTCA;GGGCAACTCA)
Significance Pathogenic
Disease Retinitis pigmentosa 12 Leber congenital amaurosis 8 not provided
Variation info
Gene CRB1
CLNDBN Retinitis pigmentosa 12 Leber congenital amaurosis 8 not provided
Reversed 0
HGVS NC_000001.10:g.197446909_197446918delCAACTCAGGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000006095.3, RCV000006096.3, RCV000086353.1,