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rs63749823

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63749823(A;A)
Make rs63749823(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16154953
GeneABCC6
is asnp
is mentioned by
dbSNPrs63749823
ebirs63749823
HLIrs63749823
Exacrs63749823
Varsomers63749823
Maprs63749823
PheGenIrs63749823
hapmaprs63749823
1000 genomesrs63749823
hgdprs63749823
ensemblrs63749823
gopubmedrs63749823
geneviewrs63749823
scholarrs63749823
googlers63749823
pharmgkbrs63749823
gwascentralrs63749823
openSNPrs63749823
23andMers63749823
23andMe allrs63749823
SNP Nexus

SNPshotrs63749823
SNPdbers63749823
MSV3drs63749823
GWAS Ctlgrs63749823
Max Magnitude0
OMIM603234
Desc
Variant0021
Relatedalso


ClinVar
Risk rs63749823(A;A)
Alt rs63749823(A;A)
Reference rs63749823(G;G)
Significance Pathogenic
Disease Pseudoxanthoma elasticum
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum
Reversed 1
HGVS NC_000016.9:g.16248810C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006958.3,



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