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

rs72653789

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653789(A;A)
Make rs72653789(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position16178916
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653789
dbSNP (classic)rs72653789
ClinGenrs72653789
ebirs72653789
HLIrs72653789
Exacrs72653789
Gnomadrs72653789
Varsomers72653789
LitVarrs72653789
Maprs72653789
PheGenIrs72653789
Biobankrs72653789
1000 genomesrs72653789
hgdprs72653789
ensemblrs72653789
geneviewrs72653789
scholarrs72653789
googlers72653789
pharmgkbrs72653789
gwascentralrs72653789
openSNPrs72653789
23andMers72653789
SNPshotrs72653789
SNPdbers72653789
MSV3drs72653789
GWAS Ctlgrs72653789
Max Magnitude0
ClinVar
Risk rs72653789(A;A)
Alt rs72653789(A;A)
Reference Rs72653789(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16272773G>T
CLNSRC
CLNACC


[PMID 15086542] Novel ABCC6 mutations in pseudoxanthoma elasticum.