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rs63750125

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63750125(A;A)
Make rs63750125(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position16159541
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750125
ebirs63750125
HLIrs63750125
Exacrs63750125
Varsomers63750125
Maprs63750125
PheGenIrs63750125
hapmaprs63750125
1000 genomesrs63750125
hgdprs63750125
ensemblrs63750125
gopubmedrs63750125
geneviewrs63750125
scholarrs63750125
googlers63750125
pharmgkbrs63750125
gwascentralrs63750125
openSNPrs63750125
23andMers63750125
23andMe allrs63750125
SNP Nexus

SNPshotrs63750125
SNPdbers63750125
MSV3drs63750125
GWAS Ctlgrs63750125
Max Magnitude0
ClinVar
Risk rs63750125(A;A)
Alt rs63750125(A;A)
Reference rs63750125(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16253398G>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.