Have questions? Visit https://www.reddit.com/r/SNPedia

rs144738703

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144738703(C;T)
Make rs144738703(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
GeneAC012314.8, PRPF31
is asnp
is mentioned by
dbSNPrs144738703
ebirs144738703
HLIrs144738703
Exacrs144738703
Varsomers144738703
Maprs144738703
PheGenIrs144738703
hapmaprs144738703
1000 genomesrs144738703
hgdprs144738703
ensemblrs144738703
gopubmedrs144738703
geneviewrs144738703
scholarrs144738703
googlers144738703
pharmgkbrs144738703
gwascentralrs144738703
openSNPrs144738703
23andMers144738703
23andMe allrs144738703
SNP Nexus

SNPshotrs144738703
SNPdbers144738703
MSV3drs144738703
GWAS Ctlgrs144738703
Max Magnitude0
ClinVar
Risk rs144738703(A,G,T;A,G,T)
Alt rs144738703(A,G,T;A,G,T)
Reference rs144738703(C;C)
Significance Pathogenic
Disease not provided Retinitis pigmentosa
Variation info
Gene PRPF31 LOC101928780
CLNDBN not provided Retinitis pigmentosa
Reversed 0
HGVS NC_000019.9:g.54627215C>A; NC_000019.9:g.54627215C>G
CLNSRC HGMD
CLNACC RCV000081777.4, RCV000132674.1,