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rs781702398

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs781702398(A;A)
Make rs781702398(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position64788968
GeneCWC27
is asnp
is mentioned by
dbSNPrs781702398
dbSNP (classic)rs781702398
ClinGenrs781702398
ebirs781702398
HLIrs781702398
Exacrs781702398
Gnomadrs781702398
Varsomers781702398
LitVarrs781702398
Maprs781702398
PheGenIrs781702398
Biobankrs781702398
1000 genomesrs781702398
hgdprs781702398
ensemblrs781702398
geneviewrs781702398
scholarrs781702398
googlers781702398
pharmgkbrs781702398
gwascentralrs781702398
openSNPrs781702398
23andMers781702398
23andMe allrs781702398
SNPshotrs781702398
SNPdbers781702398
MSV3drs781702398
GWAS Ctlgrs781702398
Max Magnitude0
ClinVar
Risk rs781702398(A;A)
Alt rs781702398(A;A)
Reference Rs781702398(C;C)
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.64084795C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000488878.1,