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rs137853138

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853138(A;A)
Make rs137853138(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197328835
GeneCRB1
is asnp
is mentioned by
dbSNPrs137853138
ebirs137853138
HLIrs137853138
Exacrs137853138
Varsomers137853138
Maprs137853138
PheGenIrs137853138
hapmaprs137853138
1000 genomesrs137853138
hgdprs137853138
ensemblrs137853138
gopubmedrs137853138
geneviewrs137853138
scholarrs137853138
googlers137853138
pharmgkbrs137853138
gwascentralrs137853138
openSNPrs137853138
23andMers137853138
23andMe allrs137853138
SNP Nexus

SNPshotrs137853138
SNPdbers137853138
MSV3drs137853138
GWAS Ctlgrs137853138
GMAF0.002296
Max Magnitude0
OMIM604210
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137853138(A;A)
Alt rs137853138(A;A)
Reference rs137853138(G;G)
Significance Pathogenic
Disease Pigmented paravenous chorioretinal atrophy not provided
Variation info
Gene CRB1
CLNDBN Pigmented paravenous chorioretinal atrophy not provided
Reversed 0
HGVS NC_000001.10:g.197297965G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000006092.3, RCV000082821.4,