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rs72664209

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72664209(G;T)
Make rs72664209(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16173283
GeneABCC6
is asnp
is mentioned by
dbSNPrs72664209
ebirs72664209
HLIrs72664209
Exacrs72664209
Varsomers72664209
Maprs72664209
PheGenIrs72664209
hapmaprs72664209
1000 genomesrs72664209
hgdprs72664209
ensemblrs72664209
gopubmedrs72664209
geneviewrs72664209
scholarrs72664209
googlers72664209
pharmgkbrs72664209
gwascentralrs72664209
openSNPrs72664209
23andMers72664209
23andMe allrs72664209
SNP Nexus

SNPshotrs72664209
SNPdbers72664209
MSV3drs72664209
GWAS Ctlgrs72664209
Max Magnitude0
ClinVar
Risk rs72664209(T;T)
Alt rs72664209(T;T)
Reference rs72664209(G;G)
Significance Pathogenic
Disease Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2
Reversed 1
HGVS NC_000016.9:g.16267140C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006938.4, RCV000087145.4,



[PMID 10835642] Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.