rs104894131

Orientation

minus

Stabilized

minus

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

Make rs104894131(G;T)

Make rs104894131(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

97689600

Gene

XPA

is a	snp
is	mentioned by
dbSNP	rs104894131
dbSNP (classic)	rs104894131
ClinGen	rs104894131
ebi	rs104894131
HLI	rs104894131
Exac	rs104894131
Gnomad	rs104894131
Varsome	rs104894131
LitVar	rs104894131
Map	rs104894131
PheGenI	rs104894131
Biobank	rs104894131
1000 genomes	rs104894131
hgdp	rs104894131
ensembl	rs104894131
geneview	rs104894131
scholar	rs104894131
google	rs104894131
pharmgkb	rs104894131
gwascentral	rs104894131
openSNP	rs104894131
23andMe	rs104894131
SNPshot	rs104894131
SNPdbe	rs104894131
MSV3d	rs104894131
GWAS Ctlg	rs104894131

Max Magnitude

0

OMIM	611153
Desc
Variant	0002
Related	also

[PMID 22190868] Exploration of structural stability in deleterious nsSNPs of the XPA gene: A molecular dynamics approach

ClinVar
Risk	rs104894131(T;T)
Alt	rs104894131(T;T)
Reference	Rs104894131(G;G)
Significance	Pathogenic
Disease	Xeroderma pigmentosum not provided
Variation	info
Gene	XPA
CLNDBN	Xeroderma pigmentosum, type 1 not provided
Reversed	1
HGVS	NC_000009.11:g.100451882C>A; NC_000009.11:g.100451882C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001048.2, RCV000492893.1,