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rs66492417

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs66492417(G;T)
Make rs66492417(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16178909
GeneABCC6
is asnp
is mentioned by
dbSNPrs66492417
ebirs66492417
HLIrs66492417
Exacrs66492417
Varsomers66492417
Maprs66492417
PheGenIrs66492417
hapmaprs66492417
1000 genomesrs66492417
hgdprs66492417
ensemblrs66492417
gopubmedrs66492417
geneviewrs66492417
scholarrs66492417
googlers66492417
pharmgkbrs66492417
gwascentralrs66492417
openSNPrs66492417
23andMers66492417
23andMe allrs66492417
SNP Nexus

SNPshotrs66492417
SNPdbers66492417
MSV3drs66492417
GWAS Ctlgrs66492417
Max Magnitude0
ClinVar
Risk rs66492417(T;T)
Alt rs66492417(T;T)
Reference rs66492417(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 0
HGVS NC_000016.9:g.16272766G>T
CLNSRC
CLNACC



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