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rs72664238

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72664238(-;-)
Make rs72664238(-;A)
ReferenceGRCh38 38.1/141
Chromosome16
Position16150663
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664238
ebirs72664238
HLIrs72664238
Exacrs72664238
Varsomers72664238
Maprs72664238
PheGenIrs72664238
hapmaprs72664238
1000 genomesrs72664238
hgdprs72664238
ensemblrs72664238
gopubmedrs72664238
geneviewrs72664238
scholarrs72664238
googlers72664238
pharmgkbrs72664238
gwascentralrs72664238
openSNPrs72664238
23andMers72664238
23andMe allrs72664238
SNP Nexus

SNPshotrs72664238
SNPdbers72664238
MSV3drs72664238
GWAS Ctlgrs72664238
Max Magnitude0
ClinVar
Risk rs72664238(;)
Alt rs72664238(;)
Reference rs72664238(A;A)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16244520delT
CLNSRC
CLNACC



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