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rs121918302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918302(A;A)
Make rs121918302(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position72251007
GeneRIMS1
is asnp
is mentioned by
dbSNPrs121918302
dbSNP (classic)rs121918302
ClinGenrs121918302
ebirs121918302
HLIrs121918302
Exacrs121918302
Gnomadrs121918302
Varsomers121918302
LitVarrs121918302
Maprs121918302
PheGenIrs121918302
Biobankrs121918302
1000 genomesrs121918302
hgdprs121918302
ensemblrs121918302
geneviewrs121918302
scholarrs121918302
googlers121918302
pharmgkbrs121918302
gwascentralrs121918302
openSNPrs121918302
23andMers121918302
SNPshotrs121918302
SNPdbers121918302
MSV3drs121918302
GWAS Ctlgrs121918302
Max Magnitude0
OMIM606629
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918302(A;A)
Alt rs121918302(A;A)
Reference Rs121918302(G;G)
Significance Pathogenic
Disease Cone-rod dystrophy 7
Variation info
Gene RIMS1
CLNDBN Cone-rod dystrophy 7
Reversed 0
HGVS NC_000006.11:g.72960710G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004385.2,