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rs63750427

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750427(C;C)
Make rs63750427(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16163158
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750427
ebirs63750427
HLIrs63750427
Exacrs63750427
Varsomers63750427
Maprs63750427
PheGenIrs63750427
hapmaprs63750427
1000 genomesrs63750427
hgdprs63750427
ensemblrs63750427
gopubmedrs63750427
geneviewrs63750427
scholarrs63750427
googlers63750427
pharmgkbrs63750427
gwascentralrs63750427
openSNPrs63750427
23andMers63750427
23andMe allrs63750427
SNP Nexus

SNPshotrs63750427
SNPdbers63750427
MSV3drs63750427
GWAS Ctlgrs63750427
Max Magnitude0
OMIM603234
Desc
Variant0004
Relatedalso
ClinVar
Risk rs63750427(A,C;A,C)
Alt rs63750427(A,C;A,C)
Reference rs63750427(G;G)
Significance Pathogenic
Disease Pseudoxanthoma elasticum
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum
Reversed 1
HGVS NC_000016.9:g.16257015C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006940.3,


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


[PMID 12673275] ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.