rs61758388
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61758388(G;T) |
Make rs61758388(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 17470454 |
Gene | LOC107987234, XYLT1 |
is a | snp |
is | mentioned by |
dbSNP | rs61758388 |
dbSNP (classic) | rs61758388 |
ClinGen | rs61758388 |
ebi | rs61758388 |
HLI | rs61758388 |
Exac | rs61758388 |
Gnomad | rs61758388 |
Varsome | rs61758388 |
LitVar | rs61758388 |
Map | rs61758388 |
PheGenI | rs61758388 |
Biobank | rs61758388 |
1000 genomes | rs61758388 |
hgdp | rs61758388 |
ensembl | rs61758388 |
geneview | rs61758388 |
scholar | rs61758388 |
rs61758388 | |
pharmgkb | rs61758388 |
gwascentral | rs61758388 |
openSNP | rs61758388 |
23andMe | rs61758388 |
SNPshot | rs61758388 |
SNPdbe | rs61758388 |
MSV3d | rs61758388 |
GWAS Ctlg | rs61758388 |
GMAF | 0.01699 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61758388(T;T) |
Alt | rs61758388(T;T) |
Reference | Rs61758388(G;G) |
Significance | Other |
Disease | Pseudoxanthoma elasticum |
Variation | info |
Gene | XYLT1 |
CLNDBN | Pseudoxanthoma elasticum, modifier of severity of |
Reversed | 1 |
HGVS | NC_000016.9:g.17564311C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002643.3, |