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rs1085307447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome5
Position64885447
GeneCWC27
is asnp
is mentioned by
dbSNPrs1085307447
dbSNP (classic)rs1085307447
ClinGenrs1085307447
ebirs1085307447
HLIrs1085307447
Exacrs1085307447
Gnomadrs1085307447
Varsomers1085307447
LitVarrs1085307447
Maprs1085307447
PheGenIrs1085307447
Biobankrs1085307447
1000 genomesrs1085307447
hgdprs1085307447
ensemblrs1085307447
geneviewrs1085307447
scholarrs1085307447
googlers1085307447
pharmgkbrs1085307447
gwascentralrs1085307447
openSNPrs1085307447
23andMers1085307447
23andMe allrs1085307447
SNPshotrs1085307447
SNPdbers1085307447
MSV3drs1085307447
GWAS Ctlgrs1085307447
Max Magnitude0
ClinVar
Risk rs1085307447(T;T)
Alt rs1085307447(T;T)
Reference Rs1085307447(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.64181274G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000488874.1,