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rs72664283

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72664283(A;G)
Make rs72664283(G;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position16202100
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664283
ebirs72664283
HLIrs72664283
Exacrs72664283
Varsomers72664283
Maprs72664283
PheGenIrs72664283
hapmaprs72664283
1000 genomesrs72664283
hgdprs72664283
ensemblrs72664283
gopubmedrs72664283
geneviewrs72664283
scholarrs72664283
googlers72664283
pharmgkbrs72664283
gwascentralrs72664283
openSNPrs72664283
23andMers72664283
23andMe allrs72664283
SNP Nexus

SNPshotrs72664283
SNPdbers72664283
MSV3drs72664283
GWAS Ctlgrs72664283
GMAF0.01607
Max Magnitude0
ClinVar
Risk rs72664283(G;G)
Alt rs72664283(G;G)
Reference rs72664283(A;A)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16295957T>C
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.