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rs61755786

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
(AGA;AGA) 0 common in clinvar
(D;D) 0 miscall by 23andMe; data is not reliable for this SNP (but you probably have the completely normal genotype)
Make rs61755786(-;-)
Make rs61755786(-;AAG)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position42721873
GenePRPH2
is asnp
is mentioned by
dbSNPrs61755786
dbSNP (classic)rs61755786
ClinGenrs61755786
ebirs61755786
HLIrs61755786
Exacrs61755786
Gnomadrs61755786
Varsomers61755786
LitVarrs61755786
Maprs61755786
PheGenIrs61755786
Biobankrs61755786
1000 genomesrs61755786
hgdprs61755786
ensemblrs61755786
geneviewrs61755786
scholarrs61755786
googlers61755786
pharmgkbrs61755786
gwascentralrs61755786
openSNPrs61755786
23andMers61755786
SNPshotrs61755786
SNPdbers61755786
MSV3drs61755786
GWAS Ctlgrs61755786
Merged fromRs672601327
Max Magnitude0

aka c.461_463delAGA (p.Lys154del)

ClinVar
Risk Rs61755786(AGA;AGA) rs61755786(-;-)
Alt Rs61755786(AGA;AGA) rs61755786(-;-)
Reference Rs61755786(AAG;AAG)
Significance Pathogenic
Disease Retinitis pigmentosa 7 not provided Patterned dystrophy of retinal pigment epithelium
Variation info
Gene PRPH2
CLNDBN Retinitis pigmentosa 7 not provided Patterned dystrophy of retinal pigment epithelium
Reversed 1
HGVS NC_000006.11:g.42689610_42689612delTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000014064.25, RCV000084974.1, RCV000149467.2,