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rs72653767

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72653767(A;A)
Make rs72653767(A;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16192873
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653767
ebirs72653767
HLIrs72653767
Exacrs72653767
Varsomers72653767
Maprs72653767
PheGenIrs72653767
hapmaprs72653767
1000 genomesrs72653767
hgdprs72653767
ensemblrs72653767
gopubmedrs72653767
geneviewrs72653767
scholarrs72653767
googlers72653767
pharmgkbrs72653767
gwascentralrs72653767
openSNPrs72653767
23andMers72653767
23andMe allrs72653767
SNP Nexus

SNPshotrs72653767
SNPdbers72653767
MSV3drs72653767
GWAS Ctlgrs72653767
Max Magnitude0
ClinVar
Risk rs72653767(A;A)
Alt rs72653767(A;A)
Reference rs72653767(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16286730A>T
CLNSRC
CLNACC



[PMID 17617515OA-icon.png] Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.