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rs28939720

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28939720(C;T)
Make rs28939720(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197427559
GeneCRB1
is asnp
is mentioned by
dbSNPrs28939720
dbSNP (classic)rs28939720
ClinGenrs28939720
ebirs28939720
HLIrs28939720
Exacrs28939720
Gnomadrs28939720
Varsomers28939720
LitVarrs28939720
Maprs28939720
PheGenIrs28939720
Biobankrs28939720
1000 genomesrs28939720
hgdprs28939720
ensemblrs28939720
geneviewrs28939720
scholarrs28939720
googlers28939720
pharmgkbrs28939720
gwascentralrs28939720
openSNPrs28939720
23andMers28939720
SNPshotrs28939720
SNPdbers28939720
MSV3drs28939720
GWAS Ctlgrs28939720
Max Magnitude0
OMIM604210
DescRETINITIS PIGMENTOSA 12
Variant0005
Relatedalso


ClinVar
Risk rs28939720(A;A) rs28939720(G;G) rs28939720(T;T)
Alt rs28939720(A;A) rs28939720(G;G) rs28939720(T;T)
Reference Rs28939720(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 12 not provided
Variation info
Gene CRB1
CLNDBN Retinitis pigmentosa 12 not provided
Reversed 0
HGVS NC_000001.10:g.197396689C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006087.3, RCV000086315.1,