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rs387906859

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906859(A;A)
Make rs387906859(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position16150765
GeneABCC6
is asnp
is mentioned by
dbSNPrs387906859
dbSNP (classic)rs387906859
ClinGenrs387906859
ebirs387906859
HLIrs387906859
Exacrs387906859
Gnomadrs387906859
Varsomers387906859
LitVarrs387906859
Maprs387906859
PheGenIrs387906859
Biobankrs387906859
1000 genomesrs387906859
hgdprs387906859
ensemblrs387906859
geneviewrs387906859
scholarrs387906859
googlers387906859
pharmgkbrs387906859
gwascentralrs387906859
openSNPrs387906859
23andMers387906859
SNPshotrs387906859
SNPdbers387906859
MSV3drs387906859
GWAS Ctlgrs387906859
Max Magnitude0
ClinVar
Risk rs387906859(A;A)
Alt rs387906859(A;A)
Reference Rs387906859(C;C)
Significance Pathogenic
Disease Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2
Reversed 1
HGVS NC_000016.9:g.16244622G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023277.3, RCV000023278.3,