Have questions? Visit https://www.reddit.com/r/SNPedia

rs72653801

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653801(C;T)
Make rs72653801(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16169810
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653801
ebirs72653801
HLIrs72653801
Exacrs72653801
Varsomers72653801
Maprs72653801
PheGenIrs72653801
hapmaprs72653801
1000 genomesrs72653801
hgdprs72653801
ensemblrs72653801
gopubmedrs72653801
geneviewrs72653801
scholarrs72653801
googlers72653801
pharmgkbrs72653801
gwascentralrs72653801
openSNPrs72653801
23andMers72653801
23andMe allrs72653801
SNP Nexus

SNPshotrs72653801
SNPdbers72653801
MSV3drs72653801
GWAS Ctlgrs72653801
Max Magnitude0

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


ClinVar
Risk rs72653801(T;T)
Alt rs72653801(T;T)
Reference rs72653801(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16263667G>A
CLNSRC
CLNACC