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rs63750428

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63750428(C;T)
Make rs63750428(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16154767
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750428
ebirs63750428
HLIrs63750428
Exacrs63750428
Varsomers63750428
Maprs63750428
PheGenIrs63750428
hapmaprs63750428
1000 genomesrs63750428
hgdprs63750428
ensemblrs63750428
gopubmedrs63750428
geneviewrs63750428
scholarrs63750428
googlers63750428
pharmgkbrs63750428
gwascentralrs63750428
openSNPrs63750428
23andMers63750428
23andMe allrs63750428
SNP Nexus

SNPshotrs63750428
SNPdbers63750428
MSV3drs63750428
GWAS Ctlgrs63750428
Max Magnitude0
ClinVar
Risk rs63750428(T;T)
Alt rs63750428(T;T)
Reference rs63750428(C;C)
Significance Probable-non-pathogenic
Disease not provided
Variation info
Gene ABCC6
CLNDBN not provided
Reversed 1
HGVS NC_000016.9:g.16248624G>A
CLNSRC ClinVar
CLNACC RCV000132641.1,



[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).