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rs63750798

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750798(G;T)
Make rs63750798(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16154654
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750798
dbSNP (classic)rs63750798
ClinGenrs63750798
ebirs63750798
HLIrs63750798
Exacrs63750798
Gnomadrs63750798
Varsomers63750798
LitVarrs63750798
Maprs63750798
PheGenIrs63750798
Biobankrs63750798
1000 genomesrs63750798
hgdprs63750798
ensemblrs63750798
geneviewrs63750798
scholarrs63750798
googlers63750798
pharmgkbrs63750798
gwascentralrs63750798
openSNPrs63750798
23andMers63750798
SNPshotrs63750798
SNPdbers63750798
MSV3drs63750798
GWAS Ctlgrs63750798
Max Magnitude0
ClinVar
Risk rs63750798(T;T)
Alt rs63750798(T;T)
Reference Rs63750798(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16248511C>A
CLNSRC
CLNACC



[PMID 12673275] ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.