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rs387907100

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907100(C;T)
Make rs387907100(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position64027138
GenePRPF6
is asnp
is mentioned by
dbSNPrs387907100
ebirs387907100
HLIrs387907100
Exacrs387907100
Varsomers387907100
Maprs387907100
PheGenIrs387907100
hapmaprs387907100
1000 genomesrs387907100
hgdprs387907100
ensemblrs387907100
gopubmedrs387907100
geneviewrs387907100
scholarrs387907100
googlers387907100
pharmgkbrs387907100
gwascentralrs387907100
openSNPrs387907100
23andMers387907100
23andMe allrs387907100
SNP Nexus

SNPshotrs387907100
SNPdbers387907100
MSV3drs387907100
GWAS Ctlgrs387907100
Max Magnitude0
ClinVar
Risk rs387907100(T;T)
Alt rs387907100(T;T)
Reference rs387907100(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 60
Variation info
Gene PRPF6
CLNDBN Retinitis pigmentosa 60
Reversed 0
HGVS NC_000020.10:g.62658491C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024084.2,