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

rs67470842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs67470842(A;G)
Make rs67470842(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16182856
GeneABCC6
is asnp
is mentioned by
dbSNPrs67470842
dbSNP (classic)rs67470842
ClinGenrs67470842
ebirs67470842
HLIrs67470842
Exacrs67470842
Gnomadrs67470842
Varsomers67470842
LitVarrs67470842
Maprs67470842
PheGenIrs67470842
Biobankrs67470842
1000 genomesrs67470842
hgdprs67470842
ensemblrs67470842
geneviewrs67470842
scholarrs67470842
googlers67470842
pharmgkbrs67470842
gwascentralrs67470842
openSNPrs67470842
23andMers67470842
SNPshotrs67470842
SNPdbers67470842
MSV3drs67470842
GWAS Ctlgrs67470842
Max Magnitude0
ClinVar
Risk rs67470842(G;G)
Alt rs67470842(G;G)
Reference Rs67470842(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene ABCC6
CLNDBN not provided
Reversed 0
HGVS NC_000016.9:g.16276713A>G
CLNSRC
CLNACC RCV000444456.1,


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