Have questions? Visit https://www.reddit.com/r/SNPedia

rs28939702

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28939702(C;T)
Make rs28939702(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16154899
GeneABCC6
is asnp
is mentioned by
dbSNPrs28939702
ebirs28939702
HLIrs28939702
Exacrs28939702
Varsomers28939702
Maprs28939702
PheGenIrs28939702
hapmaprs28939702
1000 genomesrs28939702
hgdprs28939702
ensemblrs28939702
gopubmedrs28939702
geneviewrs28939702
scholarrs28939702
googlers28939702
pharmgkbrs28939702
gwascentralrs28939702
openSNPrs28939702
23andMers28939702
23andMe allrs28939702
SNP Nexus

SNPshotrs28939702
SNPdbers28939702
MSV3drs28939702
GWAS Ctlgrs28939702
Max Magnitude0
OMIM603234
DescPSEUDOXANTHOMA ELASTICUM
Variant0017
Relatedalso


ClinVar
Risk rs28939702(A,T;A,T)
Alt rs28939702(A,T;A,T)
Reference rs28939702(C;C)
Significance Pathogenic
Disease Pseudoxanthoma elasticum
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum
Reversed 1
HGVS NC_000016.9:g.16248756G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006954.3,



[PMID 10954200] Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.