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rs63750494

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63750494(C;T)
Make rs63750494(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16155012
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750494
ebirs63750494
HLIrs63750494
Exacrs63750494
Varsomers63750494
Maprs63750494
PheGenIrs63750494
hapmaprs63750494
1000 genomesrs63750494
hgdprs63750494
ensemblrs63750494
gopubmedrs63750494
geneviewrs63750494
scholarrs63750494
googlers63750494
pharmgkbrs63750494
gwascentralrs63750494
openSNPrs63750494
23andMers63750494
23andMe allrs63750494
SNP Nexus

SNPshotrs63750494
SNPdbers63750494
MSV3drs63750494
GWAS Ctlgrs63750494
Max Magnitude0
ClinVar
Risk rs63750494(T;T)
Alt rs63750494(T;T)
Reference rs63750494(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16248869G>A
CLNSRC
CLNACC



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