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rs63750414

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs63750414(C;C)
Make rs63750414(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16154910
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750414
ebirs63750414
HLIrs63750414
Exacrs63750414
Varsomers63750414
Maprs63750414
PheGenIrs63750414
hapmaprs63750414
1000 genomesrs63750414
hgdprs63750414
ensemblrs63750414
gopubmedrs63750414
geneviewrs63750414
scholarrs63750414
googlers63750414
pharmgkbrs63750414
gwascentralrs63750414
openSNPrs63750414
23andMers63750414
23andMe allrs63750414
SNP Nexus

SNPshotrs63750414
SNPdbers63750414
MSV3drs63750414
GWAS Ctlgrs63750414
Max Magnitude0
ClinVar
Risk rs63750414(A,C;A,C)
Alt rs63750414(A,C;A,C)
Reference rs63750414(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16248767A>G; NC_000016.9:g.16248767A>T
CLNSRC
CLNACC


[PMID 15086542] Novel ABCC6 mutations in pseudoxanthoma elasticum.


[PMID 17617515OA-icon.png] Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.