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rs879255500

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879255500(C;C)
Make rs879255500(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position96799056
GeneCNNM4
is asnp
is mentioned by
dbSNPrs879255500
dbSNP (classic)rs879255500
ClinGenrs879255500
ebirs879255500
HLIrs879255500
Exacrs879255500
Gnomadrs879255500
Varsomers879255500
LitVarrs879255500
Maprs879255500
PheGenIrs879255500
Biobankrs879255500
1000 genomesrs879255500
hgdprs879255500
ensemblrs879255500
geneviewrs879255500
scholarrs879255500
googlers879255500
pharmgkbrs879255500
gwascentralrs879255500
openSNPrs879255500
23andMers879255500
SNPshotrs879255500
SNPdbers879255500
MSV3drs879255500
GWAS Ctlgrs879255500
Max Magnitude0
ClinVar
Risk rs879255500(C;C)
Alt rs879255500(C;C)
Reference Rs879255500(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.97464793G>C
CLNSRC
CLNACC RCV000239384.1,