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rs201186440

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201186440(A;A)
Make rs201186440(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position181656814
GeneCERKL
is asnp
is mentioned by
dbSNPrs201186440
ebirs201186440
HLIrs201186440
Exacrs201186440
Varsomers201186440
Maprs201186440
PheGenIrs201186440
hapmaprs201186440
1000 genomesrs201186440
hgdprs201186440
ensemblrs201186440
gopubmedrs201186440
geneviewrs201186440
scholarrs201186440
googlers201186440
pharmgkbrs201186440
gwascentralrs201186440
openSNPrs201186440
23andMers201186440
23andMe allrs201186440
SNP Nexus

SNPshotrs201186440
SNPdbers201186440
MSV3drs201186440
GWAS Ctlgrs201186440
Max Magnitude0
ClinVar
Risk rs201186440(A;A)
Alt rs201186440(A;A)
Reference rs201186440(C;C)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene CERKL
CLNDBN Retinal dystrophy
Reversed 0
HGVS NC_000002.11:g.182521541C>A
CLNSRC
CLNACC RCV000225598.1,