rs121434574

Orientation

plus

Stabilized

plus

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

Make rs121434574(A;A)

Make rs121434574(A;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

102852244

Gene	BIVM-ERCC5, ERCC5

is a	snp
is	mentioned by
dbSNP	rs121434574
dbSNP (classic)	rs121434574
ClinGen	rs121434574
ebi	rs121434574
HLI	rs121434574
Exac	rs121434574
Gnomad	rs121434574
Varsome	rs121434574
LitVar	rs121434574
Map	rs121434574
PheGenI	rs121434574
Biobank	rs121434574
1000 genomes	rs121434574
hgdp	rs121434574
ensembl	rs121434574
geneview	rs121434574
scholar	rs121434574
google	rs121434574
pharmgkb	rs121434574
gwascentral	rs121434574
openSNP	rs121434574
23andMe	rs121434574
SNPshot	rs121434574
SNPdbe	rs121434574
MSV3d	rs121434574
GWAS Ctlg	rs121434574

Max Magnitude

0

OMIM	133530
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121434574(A;A) rs121434574(T;T)
Alt	rs121434574(A;A) rs121434574(T;T)
Reference	Rs121434574(C;C)
Significance	Pathogenic
Disease	Xeroderma pigmentosum group g/Cockayne syndrome
Variation	info
Gene	BIVM-ERCC5 ERCC5
CLNDBN	Xeroderma pigmentosum group g/Cockayne syndrome
Reversed	0
HGVS	NC_000013.10:g.103504594C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018040.28,