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rs527236081

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs527236081(C;T)
Make rs527236081(T;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position10803887
GeneMAK
is asnp
is mentioned by
dbSNPrs527236081
dbSNP (classic)rs527236081
ClinGenrs527236081
ebirs527236081
HLIrs527236081
Exacrs527236081
Gnomadrs527236081
Varsomers527236081
LitVarrs527236081
Maprs527236081
PheGenIrs527236081
Biobankrs527236081
1000 genomesrs527236081
hgdprs527236081
ensemblrs527236081
geneviewrs527236081
scholarrs527236081
googlers527236081
pharmgkbrs527236081
gwascentralrs527236081
openSNPrs527236081
23andMers527236081
SNPshotrs527236081
SNPdbers527236081
MSV3drs527236081
GWAS Ctlgrs527236081
Max Magnitude0
ClinVar
Risk rs527236081(T;T)
Alt rs527236081(T;T)
Reference Rs527236081(C;C)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene MAK
CLNDBN Retinitis pigmentosa
Reversed 1
HGVS NC_000006.11:g.10804120G>A
CLNSRC ClinVar
CLNACC RCV000132644.1,