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rs137853006

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853006(C;T)
Make rs137853006(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position16013299
GenePROM1
is asnp
is mentioned by
dbSNPrs137853006
ebirs137853006
HLIrs137853006
Exacrs137853006
Varsomers137853006
Maprs137853006
PheGenIrs137853006
hapmaprs137853006
1000 genomesrs137853006
hgdprs137853006
ensemblrs137853006
gopubmedrs137853006
geneviewrs137853006
scholarrs137853006
googlers137853006
pharmgkbrs137853006
gwascentralrs137853006
openSNPrs137853006
23andMers137853006
23andMe allrs137853006
SNP Nexus

SNPshotrs137853006
SNPdbers137853006
MSV3drs137853006
GWAS Ctlgrs137853006
Max Magnitude0
OMIM604365
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853006(T;T)
Alt rs137853006(T;T)
Reference rs137853006(C;C)
Significance Pathogenic
Disease Stargardt disease 4 Bull's eye macular dystrophy Cone-rod dystrophy 12
Variation info
Gene PROM1
CLNDBN Stargardt disease 4 Bull's eye macular dystrophy Cone-rod dystrophy 12
Reversed 1
HGVS NC_000004.11:g.16014922G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005960.2, RCV000005961.2, RCV000005962.2,