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rs72653795

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653795(A;A)
Make rs72653795(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16177614
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653795
ebirs72653795
HLIrs72653795
Exacrs72653795
Varsomers72653795
Maprs72653795
PheGenIrs72653795
hapmaprs72653795
1000 genomesrs72653795
hgdprs72653795
ensemblrs72653795
gopubmedrs72653795
geneviewrs72653795
scholarrs72653795
googlers72653795
pharmgkbrs72653795
gwascentralrs72653795
openSNPrs72653795
23andMers72653795
23andMe allrs72653795
SNP Nexus

SNPshotrs72653795
SNPdbers72653795
MSV3drs72653795
GWAS Ctlgrs72653795
Max Magnitude0
ClinVar
Risk rs72653795(A;A)
Alt rs72653795(A;A)
Reference rs72653795(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16271471C>T
CLNSRC
CLNACC



[PMID 15459974] ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).