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rs63750473

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750473(C;C)
Make rs63750473(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16163101
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750473
ebirs63750473
HLIrs63750473
Exacrs63750473
Varsomers63750473
Maprs63750473
PheGenIrs63750473
hapmaprs63750473
1000 genomesrs63750473
hgdprs63750473
ensemblrs63750473
gopubmedrs63750473
geneviewrs63750473
scholarrs63750473
googlers63750473
pharmgkbrs63750473
gwascentralrs63750473
openSNPrs63750473
23andMers63750473
23andMe allrs63750473
SNP Nexus

SNPshotrs63750473
SNPdbers63750473
MSV3drs63750473
GWAS Ctlgrs63750473
Max Magnitude0
ClinVar
Risk rs63750473(C;C)
Alt rs63750473(C;C)
Reference rs63750473(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16256958C>G
CLNSRC
CLNACC



[PMID 17617515OA-icon.png] Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.