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rs387906647

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906647(A;A)
Make rs387906647(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position10830612
GeneMAK
is asnp
is mentioned by
dbSNPrs387906647
ebirs387906647
HLIrs387906647
Exacrs387906647
Varsomers387906647
Maprs387906647
PheGenIrs387906647
hapmaprs387906647
1000 genomesrs387906647
hgdprs387906647
ensemblrs387906647
gopubmedrs387906647
geneviewrs387906647
scholarrs387906647
googlers387906647
pharmgkbrs387906647
gwascentralrs387906647
openSNPrs387906647
23andMers387906647
23andMe allrs387906647
SNP Nexus

SNPshotrs387906647
SNPdbers387906647
MSV3drs387906647
GWAS Ctlgrs387906647
Max Magnitude0
ClinVar
Risk rs387906647(A,C;A,C)
Alt rs387906647(A,C;A,C)
Reference rs387906647(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 62
Variation info
Gene MAK
CLNDBN Retinitis pigmentosa 62
Reversed 1
HGVS NC_000006.11:g.10830845C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022650.25,