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rs66913554

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs66913554(A;A)
Make rs66913554(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16154644
GeneABCC6
is asnp
is mentioned by
dbSNPrs66913554
ebirs66913554
HLIrs66913554
Exacrs66913554
Varsomers66913554
Maprs66913554
PheGenIrs66913554
hapmaprs66913554
1000 genomesrs66913554
hgdprs66913554
ensemblrs66913554
gopubmedrs66913554
geneviewrs66913554
scholarrs66913554
googlers66913554
pharmgkbrs66913554
gwascentralrs66913554
openSNPrs66913554
23andMers66913554
23andMe allrs66913554
SNP Nexus

SNPshotrs66913554
SNPdbers66913554
MSV3drs66913554
GWAS Ctlgrs66913554
Max Magnitude0
ClinVar
Risk rs66913554(A;A)
Alt rs66913554(A;A)
Reference rs66913554(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 0
HGVS NC_000016.9:g.16248501G>A
CLNSRC
CLNACC


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