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rs72664231

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTG;TTG) 0 common in clinvar
Make rs72664231(-;-)
Make rs72664231(-;TTG)
ReferenceGRCh38 38.1/141
Chromosome16
Position16163154
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664231
dbSNP (classic)rs72664231
ClinGenrs72664231
ebirs72664231
HLIrs72664231
Exacrs72664231
Gnomadrs72664231
Varsomers72664231
LitVarrs72664231
Maprs72664231
PheGenIrs72664231
Biobankrs72664231
1000 genomesrs72664231
hgdprs72664231
ensemblrs72664231
geneviewrs72664231
scholarrs72664231
googlers72664231
pharmgkbrs72664231
gwascentralrs72664231
openSNPrs72664231
23andMers72664231
SNPshotrs72664231
SNPdbers72664231
MSV3drs72664231
GWAS Ctlgrs72664231
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs72664231(TTG;TTG)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16257011_16257013delCAA
CLNSRC
CLNACC



[PMID 15894595OA-icon.png] Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.