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rs72664235

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
Make rs72664235(-;-)
Make rs72664235(-;AAG)
ReferenceGRCh38 38.1/141
Chromosome16
Position16157663
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664235
ebirs72664235
HLIrs72664235
Exacrs72664235
Varsomers72664235
Maprs72664235
PheGenIrs72664235
hapmaprs72664235
1000 genomesrs72664235
hgdprs72664235
ensemblrs72664235
gopubmedrs72664235
geneviewrs72664235
scholarrs72664235
googlers72664235
pharmgkbrs72664235
gwascentralrs72664235
openSNPrs72664235
23andMers72664235
23andMe allrs72664235
SNP Nexus

SNPshotrs72664235
SNPdbers72664235
MSV3drs72664235
GWAS Ctlgrs72664235
Max Magnitude0
ClinVar
Risk rs72664235(;)
Alt rs72664235(;)
Reference rs72664235(AAG;AAG)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16251520_16251522delCTT
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.