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

rs137853907

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853907(A;A)
Make rs137853907(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position16000517
GenePROM1
is asnp
is mentioned by
dbSNPrs137853907
dbSNP (classic)rs137853907
ClinGenrs137853907
ebirs137853907
HLIrs137853907
Exacrs137853907
Gnomadrs137853907
Varsomers137853907
LitVarrs137853907
Maprs137853907
PheGenIrs137853907
Biobankrs137853907
1000 genomesrs137853907
hgdprs137853907
ensemblrs137853907
geneviewrs137853907
scholarrs137853907
googlers137853907
pharmgkbrs137853907
gwascentralrs137853907
openSNPrs137853907
23andMers137853907
SNPshotrs137853907
SNPdbers137853907
MSV3drs137853907
GWAS Ctlgrs137853907
Max Magnitude0
ClinVar
Risk rs137853907(A;A)
Alt rs137853907(A;A)
Reference Rs137853907(C;C)
Significance Pathogenic
Disease not provided Cone-rod dystrophy 12 Retinitis pigmentosa 41
Variation info
Gene PROM1
CLNDBN not provided Cone-rod dystrophy 12 Retinitis pigmentosa 41
Reversed 1
HGVS NC_000004.11:g.16002140G>T
CLNSRC
CLNACC RCV000086959.1, RCV000174557.1, RCV000174558.1,