rs1043679457

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1043679457(C;G)

Make rs1043679457(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

60927745

Gene

ERCC8

is a	snp
is	mentioned by
dbSNP	rs1043679457
dbSNP (classic)	rs1043679457
ClinGen	rs1043679457
ebi	rs1043679457
HLI	rs1043679457
Exac	rs1043679457
Gnomad	rs1043679457
Varsome	rs1043679457
LitVar	rs1043679457
Map	rs1043679457
PheGenI	rs1043679457
Biobank	rs1043679457
1000 genomes	rs1043679457
hgdp	rs1043679457
ensembl	rs1043679457
geneview	rs1043679457
scholar	rs1043679457
google	rs1043679457
pharmgkb	rs1043679457
gwascentral	rs1043679457
openSNP	rs1043679457
23andMe	rs1043679457
SNPshot	rs1043679457
SNPdbe	rs1043679457
MSV3d	rs1043679457
GWAS Ctlg	rs1043679457

Max Magnitude

0

ClinVar
Risk	rs1043679457(A;A) rs1043679457(G;G)
Alt	rs1043679457(A;A) rs1043679457(G;G)
Reference	Rs1043679457(C;C)
Significance	Pathogenic
Disease	Cockayne syndrome type A
Variation	info
Gene	ERCC8
CLNDBN	Cockayne syndrome type A
Reversed	0
HGVS	NC_000005.9:g.60223572C>G
CLNSRC
CLNACC	RCV000449643.1,