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rs281865195

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGCAGAGCCACC;TGCAGAGCCACC) 0 common in clinvar
Make rs281865195(-;-)
Make rs281865195(-;TGCAGAGCCACC)
ReferenceGRCh38 38.1/141
Chromosome17
Position6425551
GeneAIPL1
is asnp
is mentioned by
dbSNPrs281865195
ebirs281865195
HLIrs281865195
Exacrs281865195
Varsomers281865195
Maprs281865195
PheGenIrs281865195
hapmaprs281865195
1000 genomesrs281865195
hgdprs281865195
ensemblrs281865195
gopubmedrs281865195
geneviewrs281865195
scholarrs281865195
googlers281865195
pharmgkbrs281865195
gwascentralrs281865195
openSNPrs281865195
23andMers281865195
23andMe allrs281865195
SNP Nexus

SNPshotrs281865195
SNPdbers281865195
MSV3drs281865195
GWAS Ctlgrs281865195
Max Magnitude0
ClinVar
Risk rs281865195(;)
Alt rs281865195(;)
Reference rs281865195(TGCAGAGCCACC;TGCAGAGCCACC)
Significance Pathogenic
Disease Juvenile retinitis pigmentosa CONE-ROD DYSTROPHY not provided
Variation info
Gene AIPL1
CLNDBN Juvenile retinitis pigmentosa, AIPL1-related CONE-ROD DYSTROPHY, AIPL1-RELATED not provided
Reversed 1
HGVS NC_000017.10:g.6328871_6328882delGGTGGCTCTGCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005909.2, RCV000005910.2, RCV000086210.1,