rs121434575

Orientation

plus

Stabilized

plus

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

Make rs121434575(C;C)

Make rs121434575(C;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

102868152

Gene	BIVM-ERCC5, ERCC5

is a	snp
is	mentioned by
dbSNP	rs121434575
dbSNP (classic)	rs121434575
ClinGen	rs121434575
ebi	rs121434575
HLI	rs121434575
Exac	rs121434575
Gnomad	rs121434575
Varsome	rs121434575
LitVar	rs121434575
Map	rs121434575
PheGenI	rs121434575
Biobank	rs121434575
1000 genomes	rs121434575
hgdp	rs121434575
ensembl	rs121434575
geneview	rs121434575
scholar	rs121434575
google	rs121434575
pharmgkb	rs121434575
gwascentral	rs121434575
openSNP	rs121434575
23andMe	rs121434575
SNPshot	rs121434575
SNPdbe	rs121434575
MSV3d	rs121434575
GWAS Ctlg	rs121434575

Max Magnitude

0

OMIM	133530
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121434575(C;C)
Alt	rs121434575(C;C)
Reference	Rs121434575(T;T)
Significance	Pathogenic
Disease	Xeroderma pigmentosum
Variation	info
Gene	BIVM-ERCC5 ERCC5
CLNDBN	Xeroderma pigmentosum, group G
Reversed	0
HGVS	NC_000013.10:g.103520502T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018041.29,