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rs137853005

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853005(C;T)
Make rs137853005(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position15994028
GenePROM1
is asnp
is mentioned by
dbSNPrs137853005
dbSNP (classic)rs137853005
ClinGenrs137853005
ebirs137853005
HLIrs137853005
Exacrs137853005
Gnomadrs137853005
Varsomers137853005
LitVarrs137853005
Maprs137853005
PheGenIrs137853005
Biobankrs137853005
1000 genomesrs137853005
hgdprs137853005
ensemblrs137853005
geneviewrs137853005
scholarrs137853005
googlers137853005
pharmgkbrs137853005
gwascentralrs137853005
openSNPrs137853005
23andMers137853005
SNPshotrs137853005
SNPdbers137853005
MSV3drs137853005
GWAS Ctlgrs137853005
Max Magnitude0
OMIM604365
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853005(A;A) rs137853005(T;T)
Alt rs137853005(A;A) rs137853005(T;T)
Reference Rs137853005(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 41 Retinal dystrophy
Variation info
Gene PROM1
CLNDBN Retinitis pigmentosa 41 Retinal dystrophy
Reversed 1
HGVS NC_000004.11:g.15995651G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005959.3, RCV000210292.1,