Have questions? Visit https://www.reddit.com/r/SNPedia

rs2228528

From SNPedia

Orientationminus
Stabilizedminus
Make rs2228528(A;A)
Make rs2228528(A;G)
Make rs2228528(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position49524234
GeneERCC6, ERCC6-PGBD3, PGBD3
is asnp
is mentioned by
dbSNPrs2228528
ebirs2228528
HLIrs2228528
Exacrs2228528
Varsomers2228528
Maprs2228528
PheGenIrs2228528
hapmaprs2228528
1000 genomesrs2228528
hgdprs2228528
ensemblrs2228528
gopubmedrs2228528
geneviewrs2228528
scholarrs2228528
googlers2228528
pharmgkbrs2228528
gwascentralrs2228528
openSNPrs2228528
23andMers2228528
23andMe allrs2228528
SNP Nexus

SNPshotrs2228528
SNPdbers2228528
MSV3drs2228528
GWAS Ctlgrs2228528
Max Magnitude
? (A;A) (A;G) (G;G) 28

[PMID 25026993] Modifiers of (CAG)n instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes


ClinVar
Risk rs2228528(A;A)
Alt rs2228528(A;A)
Reference rs2228528(G;G)
Significance Other
Disease not specified
Variation info
Gene ERCC6-PGBD3 ERCC6 PGBD3
CLNDBN not specified
Reversed 1
HGVS NC_000010.10:g.50732280C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000116994.5,