rs121434572

Orientation

plus

Stabilized

plus

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

Make rs121434572(C;T)

Make rs121434572(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

102861621

Gene	BIVM-ERCC5, ERCC5

is a	snp
is	mentioned by
dbSNP	rs121434572
dbSNP (classic)	rs121434572
ClinGen	rs121434572
ebi	rs121434572
HLI	rs121434572
Exac	rs121434572
Gnomad	rs121434572
Varsome	rs121434572
LitVar	rs121434572
Map	rs121434572
PheGenI	rs121434572
Biobank	rs121434572
1000 genomes	rs121434572
hgdp	rs121434572
ensembl	rs121434572
geneview	rs121434572
scholar	rs121434572
google	rs121434572
pharmgkb	rs121434572
gwascentral	rs121434572
openSNP	rs121434572
23andMe	rs121434572
SNPshot	rs121434572
SNPdbe	rs121434572
MSV3d	rs121434572
GWAS Ctlg	rs121434572

GMAF

0.0004591

Max Magnitude

0

OMIM	133530
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121434572(T;T)
Alt	rs121434572(T;T)
Reference	Rs121434572(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.103513971C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018038.24,