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rs63751001

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63751001(A;A)
Make rs63751001(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16159555
GeneABCC6
is asnp
is mentioned by
dbSNPrs63751001
dbSNP (classic)rs63751001
ClinGenrs63751001
ebirs63751001
HLIrs63751001
Exacrs63751001
Gnomadrs63751001
Varsomers63751001
LitVarrs63751001
Maprs63751001
PheGenIrs63751001
Biobankrs63751001
1000 genomesrs63751001
hgdprs63751001
ensemblrs63751001
geneviewrs63751001
scholarrs63751001
googlers63751001
pharmgkbrs63751001
gwascentralrs63751001
openSNPrs63751001
23andMers63751001
SNPshotrs63751001
SNPdbers63751001
MSV3drs63751001
GWAS Ctlgrs63751001
Max Magnitude0
ClinVar
Risk rs63751001(A;A)
Alt rs63751001(A;A)
Reference Rs63751001(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16253412C>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.