rs587777090
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587777090(C;C) |
Make rs587777090(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 96304081 |
Gene | PTDSS1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777090 |
dbSNP (classic) | rs587777090 |
ClinGen | rs587777090 |
ebi | rs587777090 |
HLI | rs587777090 |
Exac | rs587777090 |
Gnomad | rs587777090 |
Varsome | rs587777090 |
LitVar | rs587777090 |
Map | rs587777090 |
PheGenI | rs587777090 |
Biobank | rs587777090 |
1000 genomes | rs587777090 |
hgdp | rs587777090 |
ensembl | rs587777090 |
geneview | rs587777090 |
scholar | rs587777090 |
rs587777090 | |
pharmgkb | rs587777090 |
gwascentral | rs587777090 |
openSNP | rs587777090 |
23andMe | rs587777090 |
SNPshot | rs587777090 |
SNPdbe | rs587777090 |
MSV3d | rs587777090 |
GWAS Ctlg | rs587777090 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777090(C;C) |
Alt | rs587777090(C;C) |
Reference | Rs587777090(T;T) |
Significance | Pathogenic |
Disease | Lenz-Majewski hyperostosis syndrome |
Variation | info |
Gene | PTDSS1 |
CLNDBN | Lenz-Majewski hyperostosis syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.97316309T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000083282.3, |