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rs72657690

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72657690(G;G)
Make rs72657690(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16169786
GeneABCC6
is asnp
is mentioned by
dbSNPrs72657690
dbSNP (classic)rs72657690
ClinGenrs72657690
ebirs72657690
HLIrs72657690
Exacrs72657690
Gnomadrs72657690
Varsomers72657690
LitVarrs72657690
Maprs72657690
PheGenIrs72657690
Biobankrs72657690
1000 genomesrs72657690
hgdprs72657690
ensemblrs72657690
geneviewrs72657690
scholarrs72657690
googlers72657690
pharmgkbrs72657690
gwascentralrs72657690
openSNPrs72657690
23andMers72657690
SNPshotrs72657690
SNPdbers72657690
MSV3drs72657690
GWAS Ctlgrs72657690
Max Magnitude0
ClinVar
Risk rs72657690(G;G)
Alt rs72657690(G;G)
Reference Rs72657690(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16263643A>C
CLNSRC
CLNACC



[PMID 15723264] New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.