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rs137853137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853137(A;T)
Make rs137853137(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position197427726
GeneCRB1
is asnp
is mentioned by
dbSNPrs137853137
dbSNP (classic)rs137853137
ClinGenrs137853137
ebirs137853137
HLIrs137853137
Exacrs137853137
Gnomadrs137853137
Varsomers137853137
LitVarrs137853137
Maprs137853137
PheGenIrs137853137
Biobankrs137853137
1000 genomesrs137853137
hgdprs137853137
ensemblrs137853137
geneviewrs137853137
scholarrs137853137
googlers137853137
pharmgkbrs137853137
gwascentralrs137853137
openSNPrs137853137
23andMers137853137
SNPshotrs137853137
SNPdbers137853137
MSV3drs137853137
GWAS Ctlgrs137853137
Max Magnitude0
OMIM604210
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137853137(T;T)
Alt rs137853137(T;T)
Reference Rs137853137(A;A)
Significance Pathogenic
Disease Retinitis pigmentosa 12 Leber congenital amaurosis 8
Variation info
Gene CRB1
CLNDBN Retinitis pigmentosa 12 Leber congenital amaurosis 8
Reversed 0
HGVS NC_000001.10:g.197396856A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006090.3, RCV000180023.1,