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rs387906352

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs387906352(-;AGAA)
Make rs387906352(AGAA;AGAA)
ReferenceGRCh38 38.1/141
Chromosome16
Position16150737
GeneABCC6
is asnp
is mentioned by
dbSNPrs387906352
dbSNP (classic)rs387906352
ClinGenrs387906352
ebirs387906352
HLIrs387906352
Exacrs387906352
Gnomadrs387906352
Varsomers387906352
LitVarrs387906352
Maprs387906352
PheGenIrs387906352
Biobankrs387906352
1000 genomesrs387906352
hgdprs387906352
ensemblrs387906352
geneviewrs387906352
scholarrs387906352
googlers387906352
pharmgkbrs387906352
gwascentralrs387906352
openSNPrs387906352
23andMers387906352
SNPshotrs387906352
SNPdbers387906352
MSV3drs387906352
GWAS Ctlgrs387906352
Max Magnitude0
ClinVar
Risk rs387906352(AGAA;AGAA)
Alt rs387906352(AGAA;AGAA)
Reference Rs387906352(-;-)
Significance Pathogenic
Disease Pseudoxanthoma elasticum
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum
Reversed 1
HGVS NC_000016.9:g.16244594_16244595insTTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006944.3,