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rs119475042

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119475042(C;C)
Make rs119475042(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position54627246
GeneAC012314.8, PRPF31
is asnp
is mentioned by
dbSNPrs119475042
ebirs119475042
HLIrs119475042
Exacrs119475042
Varsomers119475042
Maprs119475042
PheGenIrs119475042
hapmaprs119475042
1000 genomesrs119475042
hgdprs119475042
ensemblrs119475042
gopubmedrs119475042
geneviewrs119475042
scholarrs119475042
googlers119475042
pharmgkbrs119475042
gwascentralrs119475042
openSNPrs119475042
23andMers119475042
23andMe allrs119475042
SNP Nexus

SNPshotrs119475042
SNPdbers119475042
MSV3drs119475042
GWAS Ctlgrs119475042
Max Magnitude0
OMIM606419
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119475042(A,C;A,C)
Alt rs119475042(A,C;A,C)
Reference rs119475042(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 11
Variation info
Gene PRPF31 LOC101928780
CLNDBN Retinitis pigmentosa 11
Reversed 0
HGVS NC_000019.9:g.54627246G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004607.3,