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rs796051882

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs796051882(A;G)
Make rs796051882(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position15988237
GenePROM1
is asnp
is mentioned by
dbSNPrs796051882
dbSNP (classic)rs796051882
ClinGenrs796051882
ebirs796051882
HLIrs796051882
Exacrs796051882
Gnomadrs796051882
Varsomers796051882
LitVarrs796051882
Maprs796051882
PheGenIrs796051882
Biobankrs796051882
1000 genomesrs796051882
hgdprs796051882
ensemblrs796051882
geneviewrs796051882
scholarrs796051882
googlers796051882
pharmgkbrs796051882
gwascentralrs796051882
openSNPrs796051882
23andMers796051882
SNPshotrs796051882
SNPdbers796051882
MSV3drs796051882
GWAS Ctlgrs796051882
Max Magnitude0

Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.

ClinVar
Risk rs796051882(G;G)
Alt rs796051882(G;G)
Reference Rs796051882(A;A)
Significance Pathogenic
Disease Cone-rod dystrophy 2
Variation info
Gene PROM1
CLNDBN Cone-rod dystrophy 2
Reversed 1
HGVS NC_000004.11:g.15989860T>C
CLNSRC
CLNACC RCV000186496.2,