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rs72664230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTT;TTT) 0 common in clinvar
Make rs72664230(-;-)
Make rs72664230(-;TTT)
ReferenceGRCh38 38.1/141
Chromosome16
Position16165821
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664230
ebirs72664230
HLIrs72664230
Exacrs72664230
Varsomers72664230
Maprs72664230
PheGenIrs72664230
hapmaprs72664230
1000 genomesrs72664230
hgdprs72664230
ensemblrs72664230
gopubmedrs72664230
geneviewrs72664230
scholarrs72664230
googlers72664230
pharmgkbrs72664230
gwascentralrs72664230
openSNPrs72664230
23andMers72664230
23andMe allrs72664230
SNP Nexus

SNPshotrs72664230
SNPdbers72664230
MSV3drs72664230
GWAS Ctlgrs72664230
Max Magnitude0
ClinVar
Risk rs72664230(;)
Alt rs72664230(;)
Reference rs72664230(TTT;TTT)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16259678_16259680delAAA
CLNSRC
CLNACC



[PMID 16086317] Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.