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rs387906648

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906648(A;A)
Make rs387906648(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position10803886
GeneMAK
is asnp
is mentioned by
dbSNPrs387906648
dbSNP (classic)rs387906648
ClinGenrs387906648
ebirs387906648
HLIrs387906648
Exacrs387906648
Gnomadrs387906648
Varsomers387906648
LitVarrs387906648
Maprs387906648
PheGenIrs387906648
Biobankrs387906648
1000 genomesrs387906648
hgdprs387906648
ensemblrs387906648
geneviewrs387906648
scholarrs387906648
googlers387906648
pharmgkbrs387906648
gwascentralrs387906648
openSNPrs387906648
23andMers387906648
SNPshotrs387906648
SNPdbers387906648
MSV3drs387906648
GWAS Ctlgrs387906648
Max Magnitude0
ClinVar
Risk rs387906648(A;A)
Alt rs387906648(A;A)
Reference Rs387906648(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 62
Variation info
Gene MAK
CLNDBN Retinitis pigmentosa 62
Reversed 1
HGVS NC_000006.11:g.10804119C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022651.21,