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rs76024428

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs76024428(C;C)
Make rs76024428(C;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position6468237
GenePITPNM3
is asnp
is mentioned by
dbSNPrs76024428
ebirs76024428
HLIrs76024428
Exacrs76024428
Varsomers76024428
Maprs76024428
PheGenIrs76024428
hapmaprs76024428
1000 genomesrs76024428
hgdprs76024428
ensemblrs76024428
gopubmedrs76024428
geneviewrs76024428
scholarrs76024428
googlers76024428
pharmgkbrs76024428
gwascentralrs76024428
openSNPrs76024428
23andMers76024428
23andMe allrs76024428
SNP Nexus

SNPshotrs76024428
SNPdbers76024428
MSV3drs76024428
GWAS Ctlgrs76024428
GMAF0.002296
Max Magnitude0
OMIM608921
Desc
Variant0001
Relatedalso
ClinVar
Risk rs76024428(C;C)
Alt rs76024428(C;C)
Reference rs76024428(G;G)
Significance Pathogenic
Disease Cone-rod dystrophy 5 not provided
Variation info
Gene PITPNM3
CLNDBN Cone-rod dystrophy 5 not provided
Reversed 1
HGVS NC_000017.10:g.6371557C>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002071.2, RCV000153697.3,