Rs119475043

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119475043(A;A)
Make rs119475043(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position54627181
GeneAC012314.8, PRPF31
is asnp
is mentioned by
dbSNPrs119475043
Exacrs119475043
PheGenIrs119475043
nextbiors119475043
hapmaprs119475043
1000 genomesrs119475043
hgdprs119475043
ensemblrs119475043
gopubmedrs119475043
geneviewrs119475043
scholarrs119475043
googlers119475043
pharmgkbrs119475043
gwascentralrs119475043
openSNPrs119475043
23andMers119475043
23andMe allrs119475043
SNP Nexus

SNPshotrs119475043
SNPdbers119475043
MSV3drs119475043
OMIM606419
Desc
Variant0005
Relatedalso
ClinVar
Risk rs119475043(A;A)
Alt rs119475043(A;A)
Reference rs119475043(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 11
Variation info
Gene PRPF31
CLNDBN Retinitis pigmentosa 11
Reversed 0
HGVS NC_000019.9:g.54627181C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004610.1,