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rs72664232

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72664232(-;-)
Make rs72664232(-;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16163135
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664232
ebirs72664232
HLIrs72664232
Exacrs72664232
Varsomers72664232
Maprs72664232
PheGenIrs72664232
hapmaprs72664232
1000 genomesrs72664232
hgdprs72664232
ensemblrs72664232
gopubmedrs72664232
geneviewrs72664232
scholarrs72664232
googlers72664232
pharmgkbrs72664232
gwascentralrs72664232
openSNPrs72664232
23andMers72664232
23andMe allrs72664232
SNP Nexus

SNPshotrs72664232
SNPdbers72664232
MSV3drs72664232
GWAS Ctlgrs72664232
Max Magnitude0
ClinVar
Risk rs72664232(;)
Alt rs72664232(;)
Reference rs72664232(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16256992delA
CLNSRC
CLNACC



[PMID 18253096OA-icon.png] ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.