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rs72657694

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72657694(A;A)
Make rs72657694(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position16165761
GeneABCC6
is asnp
is mentioned by
dbSNPrs72657694
ebirs72657694
HLIrs72657694
Exacrs72657694
Varsomers72657694
Maprs72657694
PheGenIrs72657694
hapmaprs72657694
1000 genomesrs72657694
hgdprs72657694
ensemblrs72657694
gopubmedrs72657694
geneviewrs72657694
scholarrs72657694
googlers72657694
pharmgkbrs72657694
gwascentralrs72657694
openSNPrs72657694
23andMers72657694
23andMe allrs72657694
SNP Nexus

SNPshotrs72657694
SNPdbers72657694
MSV3drs72657694
GWAS Ctlgrs72657694
Max Magnitude0
ClinVar
Risk rs72657694(A;A)
Alt rs72657694(A;A)
Reference rs72657694(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16259618G>T
CLNSRC
CLNACC



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