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rs28939701

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28939701(C;T)
Make rs28939701(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position16163087
GeneABCC6
is asnp
is mentioned by
dbSNPrs28939701
ebirs28939701
HLIrs28939701
Exacrs28939701
Varsomers28939701
Maprs28939701
PheGenIrs28939701
hapmaprs28939701
1000 genomesrs28939701
hgdprs28939701
ensemblrs28939701
gopubmedrs28939701
geneviewrs28939701
scholarrs28939701
googlers28939701
pharmgkbrs28939701
gwascentralrs28939701
openSNPrs28939701
23andMers28939701
23andMe allrs28939701
SNP Nexus

SNPshotrs28939701
SNPdbers28939701
MSV3drs28939701
GWAS Ctlgrs28939701
Max Magnitude0
OMIM603234
DescPSEUDOXANTHOMA ELASTICUM
Variant0012
Relatedalso


ClinVar
Risk rs28939701(T;T)
Alt rs28939701(T;T)
Reference rs28939701(C;C)
Significance Pathogenic
Disease Pseudoxanthoma elasticum
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum
Reversed 1
HGVS NC_000016.9:g.16256944G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006949.4,



[PMID 10811882OA-icon.png] Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.