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rs63751215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63751215(C;T)
Make rs63751215(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16159556
GeneABCC6
is asnp
is mentioned by
dbSNPrs63751215
ebirs63751215
HLIrs63751215
Exacrs63751215
Varsomers63751215
Maprs63751215
PheGenIrs63751215
hapmaprs63751215
1000 genomesrs63751215
hgdprs63751215
ensemblrs63751215
gopubmedrs63751215
geneviewrs63751215
scholarrs63751215
googlers63751215
pharmgkbrs63751215
gwascentralrs63751215
openSNPrs63751215
23andMers63751215
23andMe allrs63751215
SNP Nexus

SNPshotrs63751215
SNPdbers63751215
MSV3drs63751215
GWAS Ctlgrs63751215
Max Magnitude0
ClinVar
Risk rs63751215(T;T)
Alt rs63751215(T;T)
Reference rs63751215(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16253413G>A
CLNSRC
CLNACC



[PMID 15645653] Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE).