rs121908565

Orientation

plus

Stabilized

plus

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

Make rs121908565(A;C)

Make rs121908565(C;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

43614181

Gene

POLH

is a	snp
is	mentioned by
dbSNP	rs121908565
dbSNP (classic)	rs121908565
ClinGen	rs121908565
ebi	rs121908565
HLI	rs121908565
Exac	rs121908565
Gnomad	rs121908565
Varsome	rs121908565
LitVar	rs121908565
Map	rs121908565
PheGenI	rs121908565
Biobank	rs121908565
1000 genomes	rs121908565
hgdp	rs121908565
ensembl	rs121908565
geneview	rs121908565
scholar	rs121908565
google	rs121908565
pharmgkb	rs121908565
gwascentral	rs121908565
openSNP	rs121908565
23andMe	rs121908565
SNPshot	rs121908565
SNPdbe	rs121908565
MSV3d	rs121908565
GWAS Ctlg	rs121908565

Max Magnitude

0

OMIM	603968
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121908565(C;C)
Alt	rs121908565(C;C)
Reference	Rs121908565(A;A)
Significance	Pathogenic
Disease	Xeroderma pigmentosum
Variation	info
Gene	POLH
CLNDBN	Xeroderma pigmentosum, variant type
Reversed	0
HGVS	NC_000006.11:g.43581918A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006253.2,