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rs61755802

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs61755802(C;C)
Make rs61755802(C;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position42704556
GeneLOC101929618, PRPH2
is asnp
is mentioned by
dbSNPrs61755802
ebirs61755802
HLIrs61755802
Exacrs61755802
Varsomers61755802
Maprs61755802
PheGenIrs61755802
hapmaprs61755802
1000 genomesrs61755802
hgdprs61755802
ensemblrs61755802
gopubmedrs61755802
geneviewrs61755802
scholarrs61755802
googlers61755802
pharmgkbrs61755802
gwascentralrs61755802
openSNPrs61755802
23andMers61755802
23andMe allrs61755802
SNP Nexus

SNPshotrs61755802
SNPdbers61755802
MSV3drs61755802
GWAS Ctlgrs61755802
Max Magnitude0
ClinVar
Risk rs61755802(C;C)
Alt rs61755802(C;C)
Reference rs61755802(T;T)
Significance Pathogenic
Disease not provided Patterned dystrophy of retinal pigment epithelium Leber congenital amaurosis 18
Variation info
Gene PRPH2
CLNDBN not provided Patterned dystrophy of retinal pigment epithelium Leber congenital amaurosis 18
Reversed 1
HGVS NC_000006.11:g.42672294A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000085002.1, RCV000149468.2, RCV000149469.2,