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rs72664287

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72664287(A;A)
Make rs72664287(A;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position16169737
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664287
dbSNP (classic)rs72664287
ClinGenrs72664287
ebirs72664287
HLIrs72664287
Exacrs72664287
Gnomadrs72664287
Varsomers72664287
LitVarrs72664287
Maprs72664287
PheGenIrs72664287
Biobankrs72664287
1000 genomesrs72664287
hgdprs72664287
ensemblrs72664287
geneviewrs72664287
scholarrs72664287
googlers72664287
pharmgkbrs72664287
gwascentralrs72664287
openSNPrs72664287
23andMers72664287
SNPshotrs72664287
SNPdbers72664287
MSV3drs72664287
GWAS Ctlgrs72664287
Max Magnitude0
ClinVar
Risk rs72664287(A;A)
Alt rs72664287(A;A)
Reference Rs72664287(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene ABCC6
CLNDBN not specified
Reversed 1
HGVS NC_000016.9:g.16263594C>T
CLNSRC
CLNACC RCV000436842.1,



[PMID 12673275] ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.