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rs63749856

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63749856(A;A)
Make rs63749856(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16155010
GeneABCC6
is asnp
is mentioned by
dbSNPrs63749856
ebirs63749856
HLIrs63749856
Exacrs63749856
Varsomers63749856
Maprs63749856
PheGenIrs63749856
hapmaprs63749856
1000 genomesrs63749856
hgdprs63749856
ensemblrs63749856
gopubmedrs63749856
geneviewrs63749856
scholarrs63749856
googlers63749856
pharmgkbrs63749856
gwascentralrs63749856
openSNPrs63749856
23andMers63749856
23andMe allrs63749856
SNP Nexus

SNPshotrs63749856
SNPdbers63749856
MSV3drs63749856
GWAS Ctlgrs63749856
Max Magnitude0
OMIM603234
Desc
Variant0020
Relatedalso
ClinVar
Risk rs63749856(A;A)
Alt rs63749856(A;A)
Reference rs63749856(G;G)
Significance Pathogenic
Disease Pseudoxanthoma elasticum
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum
Reversed 1
HGVS NC_000016.9:g.16248867C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006957.3,


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