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

rs72653798

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72653798(C;C)
Make rs72653798(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16177565
GeneABCC6
is asnp
is mentioned by
dbSNPrs72653798
ebirs72653798
HLIrs72653798
Exacrs72653798
Varsomers72653798
Maprs72653798
PheGenIrs72653798
hapmaprs72653798
1000 genomesrs72653798
hgdprs72653798
ensemblrs72653798
gopubmedrs72653798
geneviewrs72653798
scholarrs72653798
googlers72653798
pharmgkbrs72653798
gwascentralrs72653798
openSNPrs72653798
23andMers72653798
23andMe allrs72653798
SNP Nexus

SNPshotrs72653798
SNPdbers72653798
MSV3drs72653798
GWAS Ctlgrs72653798
Max Magnitude0
ClinVar
Risk rs72653798(C;C)
Alt rs72653798(C;C)
Reference rs72653798(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16271422A>G
CLNSRC
CLNACC



[PMID 18253096OA-icon.png] ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.