rs797045358
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797045358(-;GTGAAGA) |
Make rs797045358(GTGAAGA;GTGAAGA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 78015759 |
Gene | ATP7A |
is a | snp |
is | mentioned by |
dbSNP | rs797045358 |
dbSNP (classic) | rs797045358 |
ClinGen | rs797045358 |
ebi | rs797045358 |
HLI | rs797045358 |
Exac | rs797045358 |
Gnomad | rs797045358 |
Varsome | rs797045358 |
LitVar | rs797045358 |
Map | rs797045358 |
PheGenI | rs797045358 |
Biobank | rs797045358 |
1000 genomes | rs797045358 |
hgdp | rs797045358 |
ensembl | rs797045358 |
geneview | rs797045358 |
scholar | rs797045358 |
rs797045358 | |
pharmgkb | rs797045358 |
gwascentral | rs797045358 |
openSNP | rs797045358 |
23andMe | rs797045358 |
SNPshot | rs797045358 |
SNPdbe | rs797045358 |
MSV3d | rs797045358 |
GWAS Ctlg | rs797045358 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045358(AGTGAAG;AGTGAAG) |
Alt | rs797045358(AGTGAAG;AGTGAAG) |
Reference | Rs797045358(-;-) |
Significance | Pathogenic |
Disease | Menkes kinky-hair syndrome |
Variation | info |
Gene | ATP7A |
CLNDBN | Menkes kinky-hair syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.77271250_77271256dupGTGAAGA |
CLNSRC | |
CLNACC | RCV000192331.1, |