rs41556519

Orientation

minus

Stabilized

minus

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

Make rs41556519(C;T)

Make rs41556519(T;T)

Reference

GRCh38 38.1/142

Chromosome

19

Position

45352352

Gene

ERCC2

is a	snp
is	mentioned by
dbSNP	rs41556519
dbSNP (classic)	rs41556519
ClinGen	rs41556519
ebi	rs41556519
HLI	rs41556519
Exac	rs41556519
Gnomad	rs41556519
Varsome	rs41556519
LitVar	rs41556519
Map	rs41556519
PheGenI	rs41556519
Biobank	rs41556519
1000 genomes	rs41556519
hgdp	rs41556519
ensembl	rs41556519
geneview	rs41556519
scholar	rs41556519
google	rs41556519
pharmgkb	rs41556519
gwascentral	rs41556519
openSNP	rs41556519
23andMe	rs41556519
SNPshot	rs41556519
SNPdbe	rs41556519
MSV3d	rs41556519
GWAS Ctlg	rs41556519

Max Magnitude

0

ClinVar
Risk	rs41556519(T;T)
Alt	rs41556519(T;T)
Reference	Rs41556519(C;C)
Significance	Pathogenic
Disease	Xeroderma pigmentosum
Variation	info
Gene	ERCC2
CLNDBN	Xeroderma pigmentosum, group D
Reversed	1
HGVS	NC_000019.9:g.45855610G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018284.29,