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

rs72664233

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(I;I) 0
(T;T) 0 common in clinvar
Make rs72664233(-;-)
Make rs72664233(-;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16157770
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664233
ebirs72664233
HLIrs72664233
Exacrs72664233
Varsomers72664233
Maprs72664233
PheGenIrs72664233
hapmaprs72664233
1000 genomesrs72664233
hgdprs72664233
ensemblrs72664233
gopubmedrs72664233
geneviewrs72664233
scholarrs72664233
googlers72664233
pharmgkbrs72664233
gwascentralrs72664233
openSNPrs72664233
23andMers72664233
23andMe allrs72664233
SNP Nexus

SNPshotrs72664233
SNPdbers72664233
MSV3drs72664233
GWAS Ctlgrs72664233
Max Magnitude0
ClinVar
Risk rs72664233(;)
Alt rs72664233(;)
Reference rs72664233(T;T)
Significance Pathogenic
Disease Pseudoxanthoma elasticum
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum
Reversed 1
HGVS NC_000016.9:g.16251627delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006941.3,



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