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rs63750987

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63750987(C;G)
Make rs63750987(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16163137
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750987
ebirs63750987
HLIrs63750987
Exacrs63750987
Varsomers63750987
Maprs63750987
PheGenIrs63750987
hapmaprs63750987
1000 genomesrs63750987
hgdprs63750987
ensemblrs63750987
gopubmedrs63750987
geneviewrs63750987
scholarrs63750987
googlers63750987
pharmgkbrs63750987
gwascentralrs63750987
openSNPrs63750987
23andMers63750987
23andMe allrs63750987
SNP Nexus

SNPshotrs63750987
SNPdbers63750987
MSV3drs63750987
GWAS Ctlgrs63750987
Max Magnitude0
ClinVar
Risk rs63750987(G,T;G,T)
Alt rs63750987(G,T;G,T)
Reference rs63750987(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16256994G>A; NC_000016.9:g.16256994G>C
CLNSRC
CLNACC


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


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