rs72554644
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs72554644(A;A) |
Make rs72554644(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 78012885 |
Gene | ATP7A |
is a | snp |
is | mentioned by |
dbSNP | rs72554644 |
dbSNP (classic) | rs72554644 |
ClinGen | rs72554644 |
ebi | rs72554644 |
HLI | rs72554644 |
Exac | rs72554644 |
Gnomad | rs72554644 |
Varsome | rs72554644 |
LitVar | rs72554644 |
Map | rs72554644 |
PheGenI | rs72554644 |
Biobank | rs72554644 |
1000 genomes | rs72554644 |
hgdp | rs72554644 |
ensembl | rs72554644 |
geneview | rs72554644 |
scholar | rs72554644 |
rs72554644 | |
pharmgkb | rs72554644 |
gwascentral | rs72554644 |
openSNP | rs72554644 |
23andMe | rs72554644 |
SNPshot | rs72554644 |
SNPdbe | rs72554644 |
MSV3d | rs72554644 |
GWAS Ctlg | rs72554644 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72554644(A;A) rs72554644(T;T) |
Alt | rs72554644(A;A) rs72554644(T;T) |
Reference | Rs72554644(G;G) |
Significance | Pathogenic |
Disease | Menkes kinky-hair syndrome |
Variation | info |
Gene | ATP7A |
CLNDBN | Menkes kinky-hair syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.77268382G>A; NC_000023.10:g.77268382G>T |
CLNSRC | |
CLNACC | RCV000193991.1, RCV000195017.1, |