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rs72664227

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72664227(-;-)
Make rs72664227(-;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16182879
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664227
dbSNP (classic)rs72664227
ClinGenrs72664227
ebirs72664227
HLIrs72664227
Exacrs72664227
Gnomadrs72664227
Varsomers72664227
LitVarrs72664227
Maprs72664227
PheGenIrs72664227
Biobankrs72664227
1000 genomesrs72664227
hgdprs72664227
ensemblrs72664227
geneviewrs72664227
scholarrs72664227
googlers72664227
pharmgkbrs72664227
gwascentralrs72664227
openSNPrs72664227
23andMers72664227
SNPshotrs72664227
SNPdbers72664227
MSV3drs72664227
GWAS Ctlgrs72664227
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs72664227(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16276736delC
CLNSRC
CLNACC



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