rs781995242
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs781995242(A;A) |
Make rs781995242(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 78029290 |
Gene | ATP7A |
is a | snp |
is | mentioned by |
dbSNP | rs781995242 |
dbSNP (classic) | rs781995242 |
ClinGen | rs781995242 |
ebi | rs781995242 |
HLI | rs781995242 |
Exac | rs781995242 |
Gnomad | rs781995242 |
Varsome | rs781995242 |
LitVar | rs781995242 |
Map | rs781995242 |
PheGenI | rs781995242 |
Biobank | rs781995242 |
1000 genomes | rs781995242 |
hgdp | rs781995242 |
ensembl | rs781995242 |
geneview | rs781995242 |
scholar | rs781995242 |
rs781995242 | |
pharmgkb | rs781995242 |
gwascentral | rs781995242 |
openSNP | rs781995242 |
23andMe | rs781995242 |
SNPshot | rs781995242 |
SNPdbe | rs781995242 |
MSV3d | rs781995242 |
GWAS Ctlg | rs781995242 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs781995242(A;A) |
Alt | rs781995242(A;A) |
Reference | Rs781995242(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | ATP7A |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.77284787G>A |
CLNSRC | |
CLNACC | RCV000235979.1, |