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rs72664226

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72664226(-;-)
Make rs72664226(-;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position16203448
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664226
ebirs72664226
HLIrs72664226
Exacrs72664226
Varsomers72664226
Maprs72664226
PheGenIrs72664226
hapmaprs72664226
1000 genomesrs72664226
hgdprs72664226
ensemblrs72664226
gopubmedrs72664226
geneviewrs72664226
scholarrs72664226
googlers72664226
pharmgkbrs72664226
gwascentralrs72664226
openSNPrs72664226
23andMers72664226
23andMe allrs72664226
SNP Nexus

SNPshotrs72664226
SNPdbers72664226
MSV3drs72664226
GWAS Ctlgrs72664226
Max Magnitude0
ClinVar
Risk rs72664226(;)
Alt rs72664226(;)
Reference rs72664226(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16297305delG
CLNSRC
CLNACC



[PMID 11439001] Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.