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rs63750146

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750146(A;A)
Make rs63750146(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16163084
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750146
ebirs63750146
HLIrs63750146
Exacrs63750146
Varsomers63750146
Maprs63750146
PheGenIrs63750146
hapmaprs63750146
1000 genomesrs63750146
hgdprs63750146
ensemblrs63750146
gopubmedrs63750146
geneviewrs63750146
scholarrs63750146
googlers63750146
pharmgkbrs63750146
gwascentralrs63750146
openSNPrs63750146
23andMers63750146
23andMe allrs63750146
SNP Nexus

SNPshotrs63750146
SNPdbers63750146
MSV3drs63750146
GWAS Ctlgrs63750146
Max Magnitude0
ClinVar
Risk rs63750146(A;A)
Alt rs63750146(A;A)
Reference rs63750146(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16256941C>T
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.