rs193922107

minus

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

Make rs193922107(C;T)

Make rs193922107(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

51939091

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs193922107
dbSNP (classic)	rs193922107
ClinGen	rs193922107
ebi	rs193922107
HLI	rs193922107
Exac	rs193922107
Gnomad	rs193922107
Varsome	rs193922107
LitVar	rs193922107
Map	rs193922107
PheGenI	rs193922107
Biobank	rs193922107
1000 genomes	rs193922107
hgdp	rs193922107
ensembl	rs193922107
geneview	rs193922107
scholar	rs193922107
google	rs193922107
pharmgkb	rs193922107
gwascentral	rs193922107
openSNP	rs193922107
23andMe	rs193922107
SNPshot	rs193922107
SNPdbe	rs193922107
MSV3d	rs193922107
GWAS Ctlg	rs193922107

Max Magnitude

0

ClinVar
Risk	rs193922107(T;T)
Alt	rs193922107(T;T)
Reference	Rs193922107(C;C)
Significance	Other
Disease	Wilson disease not provided
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease not provided
Reversed	1
HGVS	NC_000013.10:g.52513227G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000029374.3, RCV000413521.1,

[PMID 19118 ] Studies on the cardiovascular effects of pindolol in DOCA/saline hypertensive rats.

[PMID 10447265] Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.

[PMID 10544227 ] Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.

[PMID 16283883] Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

[PMID 16684691] Familial gene analysis for Wilson disease from north-west Indian patients.

[PMID 18483695] Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.