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rs72653769

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72653769(A;A)
Make rs72653769(A;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16190315
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653769
ebirs72653769
HLIrs72653769
Exacrs72653769
Varsomers72653769
Maprs72653769
PheGenIrs72653769
hapmaprs72653769
1000 genomesrs72653769
hgdprs72653769
ensemblrs72653769
gopubmedrs72653769
geneviewrs72653769
scholarrs72653769
googlers72653769
pharmgkbrs72653769
gwascentralrs72653769
openSNPrs72653769
23andMers72653769
23andMe allrs72653769
SNP Nexus

SNPshotrs72653769
SNPdbers72653769
MSV3drs72653769
GWAS Ctlgrs72653769
Max Magnitude0
ClinVar
Risk rs72653769(A;A)
Alt rs72653769(A;A)
Reference rs72653769(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16284172A>T
CLNSRC
CLNACC



[PMID 16086317] Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.