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rs63750273

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750273(G;T)
Make rs63750273(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16157810
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750273
ClinGenrs63750273
ebirs63750273
HLIrs63750273
Exacrs63750273
Varsomers63750273
Maprs63750273
PheGenIrs63750273
hapmaprs63750273
1000 genomesrs63750273
hgdprs63750273
ensemblrs63750273
gopubmedrs63750273
geneviewrs63750273
scholarrs63750273
googlers63750273
pharmgkbrs63750273
gwascentralrs63750273
openSNPrs63750273
23andMers63750273
23andMe allrs63750273
SNP Nexus

SNPshotrs63750273
SNPdbers63750273
MSV3drs63750273
GWAS Ctlgrs63750273
Max Magnitude0
ClinVar
Risk rs63750273(A;A)
Alt rs63750273(A;A)
Reference Rs63750273(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.16251667C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006952.4, RCV000023274.4,


[PMID 16086317] Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.


[PMID 10811882OA-icon.png] Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.