rs1057517444
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAAC;AAAC) | 0 | common in clinvar |
Make rs1057517444(-;-) |
Make rs1057517444(-;AAAC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 51970692 |
Gene | ATP7B |
is a | snp |
is | mentioned by |
dbSNP | rs1057517444 |
dbSNP (classic) | rs1057517444 |
ClinGen | rs1057517444 |
ebi | rs1057517444 |
HLI | rs1057517444 |
Exac | rs1057517444 |
Gnomad | rs1057517444 |
Varsome | rs1057517444 |
LitVar | rs1057517444 |
Map | rs1057517444 |
PheGenI | rs1057517444 |
Biobank | rs1057517444 |
1000 genomes | rs1057517444 |
hgdp | rs1057517444 |
ensembl | rs1057517444 |
geneview | rs1057517444 |
scholar | rs1057517444 |
rs1057517444 | |
pharmgkb | rs1057517444 |
gwascentral | rs1057517444 |
openSNP | rs1057517444 |
23andMe | rs1057517444 |
SNPshot | rs1057517444 |
SNPdbe | rs1057517444 |
MSV3d | rs1057517444 |
GWAS Ctlg | rs1057517444 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517444(-;-) |
Alt | rs1057517444(-;-) |
Reference | Rs1057517444(AAAC;AAAC) |
Significance | Probable-Pathogenic |
Disease | Wilson disease |
Variation | info |
Gene | ATP7B |
CLNDBN | Wilson disease |
Reversed | 1 |
HGVS | NC_000013.10:g.52544828_52544831delGTTT |
CLNSRC | |
CLNACC | RCV000412377.1, |