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rs63750402

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63750402(C;T)
Make rs63750402(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16159514
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750402
dbSNP (classic)rs63750402
ClinGenrs63750402
ebirs63750402
HLIrs63750402
Exacrs63750402
Gnomadrs63750402
Varsomers63750402
LitVarrs63750402
Maprs63750402
PheGenIrs63750402
Biobankrs63750402
1000 genomesrs63750402
hgdprs63750402
ensemblrs63750402
geneviewrs63750402
scholarrs63750402
googlers63750402
pharmgkbrs63750402
gwascentralrs63750402
openSNPrs63750402
23andMers63750402
SNPshotrs63750402
SNPdbers63750402
MSV3drs63750402
GWAS Ctlgrs63750402
GMAF0.007805
Max Magnitude0
ClinVar
Risk rs63750402(T;T)
Alt rs63750402(T;T)
Reference Rs63750402(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16253371G>A
CLNSRC
CLNACC



[PMID 16086317] Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.