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rs72664237

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72664237(-;-)
Make rs72664237(-;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position16154732
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664237
dbSNP (classic)rs72664237
ClinGenrs72664237
ebirs72664237
HLIrs72664237
Exacrs72664237
Gnomadrs72664237
Varsomers72664237
LitVarrs72664237
Maprs72664237
PheGenIrs72664237
Biobankrs72664237
1000 genomesrs72664237
hgdprs72664237
ensemblrs72664237
geneviewrs72664237
scholarrs72664237
googlers72664237
pharmgkbrs72664237
gwascentralrs72664237
openSNPrs72664237
23andMers72664237
SNPshotrs72664237
SNPdbers72664237
MSV3drs72664237
GWAS Ctlgrs72664237
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs72664237(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16248589delG
CLNSRC
CLNACC



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