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rs66864704

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs66864704(A;G)
Make rs66864704(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16188907
GeneABCC6
is asnp
is mentioned by
dbSNPrs66864704
ebirs66864704
HLIrs66864704
Exacrs66864704
Varsomers66864704
Maprs66864704
PheGenIrs66864704
hapmaprs66864704
1000 genomesrs66864704
hgdprs66864704
ensemblrs66864704
gopubmedrs66864704
geneviewrs66864704
scholarrs66864704
googlers66864704
pharmgkbrs66864704
gwascentralrs66864704
openSNPrs66864704
23andMers66864704
23andMe allrs66864704
SNP Nexus

SNPshotrs66864704
SNPdbers66864704
MSV3drs66864704
GWAS Ctlgrs66864704
Max Magnitude0
ClinVar
Risk rs66864704(G;G)
Alt rs66864704(G;G)
Reference rs66864704(A;A)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 0
HGVS NC_000016.9:g.16282764A>G
CLNSRC
CLNACC


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