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rs63750295

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs63750295(C;C)
Make rs63750295(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16150710
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750295
ebirs63750295
HLIrs63750295
Exacrs63750295
Varsomers63750295
Maprs63750295
PheGenIrs63750295
hapmaprs63750295
1000 genomesrs63750295
hgdprs63750295
ensemblrs63750295
gopubmedrs63750295
geneviewrs63750295
scholarrs63750295
googlers63750295
pharmgkbrs63750295
gwascentralrs63750295
openSNPrs63750295
23andMers63750295
23andMe allrs63750295
SNP Nexus

SNPshotrs63750295
SNPdbers63750295
MSV3drs63750295
GWAS Ctlgrs63750295
Max Magnitude0
ClinVar
Risk rs63750295(C;C)
Alt rs63750295(C;C)
Reference rs63750295(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16244567A>G
CLNSRC
CLNACC



[PMID 11536079OA-icon.png] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.