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rs1085307446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome5
Position64785579
GeneCWC27
is asnp
is mentioned by
dbSNPrs1085307446
dbSNP (classic)rs1085307446
ClinGenrs1085307446
ebirs1085307446
HLIrs1085307446
Exacrs1085307446
Gnomadrs1085307446
Varsomers1085307446
LitVarrs1085307446
Maprs1085307446
PheGenIrs1085307446
Biobankrs1085307446
1000 genomesrs1085307446
hgdprs1085307446
ensemblrs1085307446
geneviewrs1085307446
scholarrs1085307446
googlers1085307446
pharmgkbrs1085307446
gwascentralrs1085307446
openSNPrs1085307446
23andMers1085307446
SNPshotrs1085307446
SNPdbers1085307446
MSV3drs1085307446
GWAS Ctlgrs1085307446
Max Magnitude0
ClinVar
Risk rs1085307446(A;A)
Alt rs1085307446(A;A)
Reference Rs1085307446(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa with or without skeletal anomalies
Variation info
Gene CWC27
CLNDBN Retinitis pigmentosa with or without skeletal anomalies
Reversed 0
HGVS NC_000005.9:g.64081406G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000488877.1,