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

rs2238472

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2238472(A;A)
Make rs2238472(A;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position16157742
GeneABCC6
is asnp
is mentioned by
dbSNPrs2238472
ebirs2238472
HLIrs2238472
Exacrs2238472
Varsomers2238472
Maprs2238472
PheGenIrs2238472
hapmaprs2238472
1000 genomesrs2238472
hgdprs2238472
ensemblrs2238472
gopubmedrs2238472
geneviewrs2238472
scholarrs2238472
googlers2238472
pharmgkbrs2238472
gwascentralrs2238472
openSNPrs2238472
23andMers2238472
23andMe allrs2238472
SNP Nexus

SNPshotrs2238472
SNPdbers2238472
MSV3drs2238472
GWAS Ctlgrs2238472
GMAF0.1938
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM603234
DescPSEUDOXANTHOMA ELASTICUM
Variant0011
Relatedalso



ClinVar
Risk rs2238472(A;A)
Alt rs2238472(A;A)
Reference rs2238472(G;G)
Significance Pathogenic
Disease Pseudoxanthoma elasticum not provided
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum not provided
Reversed 1
HGVS NC_000016.9:g.16251599C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006948.3, RCV000132640.1,



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


GET Evidence
ABCC6-R1268Q
aa_change Arg1268Gln
aa_change_short R1268Q
impact pharmacogenetic
qualified_impact Low clinical importance, Uncertain pharmacogenetic
overall_frequency 0.218907
summary This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.