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rs72664284

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72664284(C;C)
Make rs72664284(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16202036
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664284
ebirs72664284
HLIrs72664284
Exacrs72664284
Varsomers72664284
Maprs72664284
PheGenIrs72664284
hapmaprs72664284
1000 genomesrs72664284
hgdprs72664284
ensemblrs72664284
gopubmedrs72664284
geneviewrs72664284
scholarrs72664284
googlers72664284
pharmgkbrs72664284
gwascentralrs72664284
openSNPrs72664284
23andMers72664284
23andMe allrs72664284
SNP Nexus

SNPshotrs72664284
SNPdbers72664284
MSV3drs72664284
GWAS Ctlgrs72664284
Max Magnitude0
ClinVar
Risk rs72664284(C;C)
Alt rs72664284(C;C)
Reference rs72664284(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16295893A>G
CLNSRC
CLNACC


[PMID 11692167] A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.