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rs75267011

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs75267011(A;A)
Make rs75267011(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position96761706
GeneCNNM4
is asnp
is mentioned by
dbSNPrs75267011
ebirs75267011
HLIrs75267011
Exacrs75267011
Varsomers75267011
Maprs75267011
PheGenIrs75267011
hapmaprs75267011
1000 genomesrs75267011
hgdprs75267011
ensemblrs75267011
gopubmedrs75267011
geneviewrs75267011
scholarrs75267011
googlers75267011
pharmgkbrs75267011
gwascentralrs75267011
openSNPrs75267011
23andMers75267011
23andMe allrs75267011
SNP Nexus

SNPshotrs75267011
SNPdbers75267011
MSV3drs75267011
GWAS Ctlgrs75267011
Max Magnitude0
OMIM607805
Desc
Variant0002
Relatedalso
ClinVar
Risk rs75267011(A;A)
Alt rs75267011(A;A)
Reference rs75267011(G;G)
Significance Pathogenic
Disease Cone-rod dystrophy amelogenesis imperfecta
Variation info
Gene CNNM4
CLNDBN Cone-rod dystrophy amelogenesis imperfecta
Reversed 0
HGVS NC_000002.11:g.97427443G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002982.2,