rs2228528

Orientation

minus

Stabilized

minus

Make rs2228528(A;A)

Make rs2228528(A;G)

Make rs2228528(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49524234

Gene	ERCC6, PGBD3

is a	snp
is	mentioned by
dbSNP	rs2228528
dbSNP (classic)	rs2228528
ClinGen	rs2228528
ebi	rs2228528
HLI	rs2228528
Exac	rs2228528
Gnomad	rs2228528
Varsome	rs2228528
LitVar	rs2228528
Map	rs2228528
PheGenI	rs2228528
Biobank	rs2228528
1000 genomes	rs2228528
hgdp	rs2228528
ensembl	rs2228528
geneview	rs2228528
scholar	rs2228528
google	rs2228528
pharmgkb	rs2228528
gwascentral	rs2228528
openSNP	rs2228528
23andMe	rs2228528
SNPshot	rs2228528
SNPdbe	rs2228528
MSV3d	rs2228528
GWAS Ctlg	rs2228528

Max Magnitude

0

?

(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 Macular degeneration Cockayne syndrome Cerebrooculofacioskeletal Syndrome
Variation	info
Gene	ERCC6 PGBD3
CLNDBN	not specified Macular degeneration Cockayne syndrome Cerebrooculofacioskeletal Syndrome
Reversed	1
HGVS	NC_000010.10:g.50732280C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000116994.6, RCV000278377.1, RCV000335722.1, RCV000375364.1,

[PMID 28707579] The Involvement of ERCC2/XPD and ERCC6/CSB Wild Type Alleles in Protection against Aging and Cancer.