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rs63750457

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750457(A;A)
Make rs63750457(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16163008
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750457
dbSNP (classic)rs63750457
ClinGenrs63750457
ebirs63750457
HLIrs63750457
Exacrs63750457
Gnomadrs63750457
Varsomers63750457
LitVarrs63750457
Maprs63750457
PheGenIrs63750457
Biobankrs63750457
1000 genomesrs63750457
hgdprs63750457
ensemblrs63750457
geneviewrs63750457
scholarrs63750457
googlers63750457
pharmgkbrs63750457
gwascentralrs63750457
openSNPrs63750457
23andMers63750457
SNPshotrs63750457
SNPdbers63750457
MSV3drs63750457
GWAS Ctlgrs63750457
Max Magnitude0
ClinVar
Risk rs63750457(A;A)
Alt rs63750457(A;A)
Reference Rs63750457(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene ABCC6
CLNDBN not provided
Reversed 1
HGVS NC_000016.9:g.16256865C>T
CLNSRC
CLNACC RCV000413984.1,


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