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rs63751325

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63751325(G;T)
Make rs63751325(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position16155022
GeneABCC6
is asnp
is mentioned by
dbSNPrs63751325
ebirs63751325
HLIrs63751325
Exacrs63751325
Varsomers63751325
Maprs63751325
PheGenIrs63751325
hapmaprs63751325
1000 genomesrs63751325
hgdprs63751325
ensemblrs63751325
gopubmedrs63751325
geneviewrs63751325
scholarrs63751325
googlers63751325
pharmgkbrs63751325
gwascentralrs63751325
openSNPrs63751325
23andMers63751325
23andMe allrs63751325
SNP Nexus

SNPshotrs63751325
SNPdbers63751325
MSV3drs63751325
GWAS Ctlgrs63751325
GMAF0.0009183
Max Magnitude0
OMIM603234
Desc
Variant0019
Relatedalso


ClinVar
Risk rs63751325(A,T;A,T)
Alt rs63751325(A,T;A,T)
Reference rs63751325(G;G)
Significance Pathogenic
Disease Pseudoxanthoma elasticum
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum
Reversed 1
HGVS NC_000016.9:g.16248879C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006956.3,



[PMID 11536079OA-icon.png] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.