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rs672601327

From SNPedia

Merged intors61755786
Orientationminus
Stabilizedminus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs672601327(-;-)
Make rs672601327(-;AGA)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position42721872
GenePRPH2
is asnp
is mentioned by
dbSNPrs672601327
dbSNP (classic)rs672601327
ClinGenrs672601327
ebirs672601327
HLIrs672601327
Exacrs672601327
Gnomadrs672601327
Varsomers672601327
LitVarrs672601327
Maprs672601327
PheGenIrs672601327
Biobankrs672601327
1000 genomesrs672601327
hgdprs672601327
ensemblrs672601327
geneviewrs672601327
scholarrs672601327
googlers672601327
pharmgkbrs672601327
gwascentralrs672601327
openSNPrs672601327
23andMers672601327
SNPshotrs672601327
SNPdbers672601327
MSV3drs672601327
GWAS Ctlgrs672601327
StatusMerged into rs61755786
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs672601327(AGA;AGA)
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,