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rs63750459

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63750459(C;T)
Make rs63750459(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16163110
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750459
ebirs63750459
HLIrs63750459
Exacrs63750459
Varsomers63750459
Maprs63750459
PheGenIrs63750459
hapmaprs63750459
1000 genomesrs63750459
hgdprs63750459
ensemblrs63750459
gopubmedrs63750459
geneviewrs63750459
scholarrs63750459
googlers63750459
pharmgkbrs63750459
gwascentralrs63750459
openSNPrs63750459
23andMers63750459
23andMe allrs63750459
SNP Nexus

SNPshotrs63750459
SNPdbers63750459
MSV3drs63750459
GWAS Ctlgrs63750459
Max Magnitude0
OMIM603234
Desc
Variant0024
Relatedalso


ClinVar
Risk rs63750459(T;T)
Alt rs63750459(T;T)
Reference rs63750459(C;C)
Significance Pathogenic
Disease Pseudoxanthoma elasticum
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum
Reversed 1
HGVS NC_000016.9:g.16256967G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006947.4,



[PMID 14631379] Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients.