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rs67561842

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs67561842(A;A)
Make rs67561842(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16178919
GeneABCC6
is asnp
is mentioned by
dbSNPrs67561842
ebirs67561842
HLIrs67561842
Exacrs67561842
Varsomers67561842
Maprs67561842
PheGenIrs67561842
hapmaprs67561842
1000 genomesrs67561842
hgdprs67561842
ensemblrs67561842
gopubmedrs67561842
geneviewrs67561842
scholarrs67561842
googlers67561842
pharmgkbrs67561842
gwascentralrs67561842
openSNPrs67561842
23andMers67561842
23andMe allrs67561842
SNP Nexus

SNPshotrs67561842
SNPdbers67561842
MSV3drs67561842
GWAS Ctlgrs67561842
Max Magnitude0
ClinVar
Risk rs67561842(A,T;A,T)
Alt rs67561842(A,T;A,T)
Reference rs67561842(G;G)
Significance Pathogenic
Disease Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2
Reversed 1
HGVS NC_000016.9:g.16272776C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023275.3, RCV000023276.3,



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