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

rs878853392

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878853392(A;T)
Make rs878853392(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position21317847
GeneRPGRIP1
is asnp
is mentioned by
dbSNPrs878853392
dbSNP (classic)rs878853392
ClinGenrs878853392
ebirs878853392
HLIrs878853392
Exacrs878853392
Gnomadrs878853392
Varsomers878853392
LitVarrs878853392
Maprs878853392
PheGenIrs878853392
Biobankrs878853392
1000 genomesrs878853392
hgdprs878853392
ensemblrs878853392
geneviewrs878853392
scholarrs878853392
googlers878853392
pharmgkbrs878853392
gwascentralrs878853392
openSNPrs878853392
23andMers878853392
SNPshotrs878853392
SNPdbers878853392
MSV3drs878853392
GWAS Ctlgrs878853392
Max Magnitude0
ClinVar
Risk rs878853392(T;T)
Alt rs878853392(T;T)
Reference Rs878853392(A;A)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene RPGRIP1
CLNDBN Retinal dystrophy
Reversed 0
HGVS NC_000014.8:g.21786006A>T
CLNSRC
CLNACC RCV000225543.1,