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rs72664229

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72664229(-;-)
Make rs72664229(-;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position16178891
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664229
dbSNP (classic)rs72664229
ClinGenrs72664229
ebirs72664229
HLIrs72664229
Exacrs72664229
Gnomadrs72664229
Varsomers72664229
LitVarrs72664229
Maprs72664229
PheGenIrs72664229
Biobankrs72664229
1000 genomesrs72664229
hgdprs72664229
ensemblrs72664229
geneviewrs72664229
scholarrs72664229
googlers72664229
pharmgkbrs72664229
gwascentralrs72664229
openSNPrs72664229
23andMers72664229
SNPshotrs72664229
SNPdbers72664229
MSV3drs72664229
GWAS Ctlgrs72664229
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs72664229(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16272748delG
CLNSRC
CLNACC



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