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rs60791294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs60791294(A;A)
Make rs60791294(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16163086
GeneABCC6
is asnp
is mentioned by
dbSNPrs60791294
ebirs60791294
HLIrs60791294
Exacrs60791294
Varsomers60791294
Maprs60791294
PheGenIrs60791294
hapmaprs60791294
1000 genomesrs60791294
hgdprs60791294
ensemblrs60791294
gopubmedrs60791294
geneviewrs60791294
scholarrs60791294
googlers60791294
pharmgkbrs60791294
gwascentralrs60791294
openSNPrs60791294
23andMers60791294
23andMe allrs60791294
SNP Nexus

SNPshotrs60791294
SNPdbers60791294
MSV3drs60791294
GWAS Ctlgrs60791294
Max Magnitude0
OMIM603234
Desc
Variant0003
Relatedalso


ClinVar
Risk rs60791294(A,C;A,C)
Alt rs60791294(A,C;A,C)
Reference rs60791294(G;G)
Significance Pathogenic
Disease Pseudoxanthoma elasticum
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum
Reversed 1
HGVS NC_000016.9:g.16256943C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006939.3,



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


[PMID 11536079OA-icon.png] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.