rs587776532
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
(TC;TC) | 0 | common in clinvar |
Make rs587776532(-;-) |
Make rs587776532(-;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 40134291 |
Gene | MPLKIP, SUGCT |
is a | snp |
is | mentioned by |
dbSNP | rs587776532 |
dbSNP (classic) | rs587776532 |
ClinGen | rs587776532 |
ebi | rs587776532 |
HLI | rs587776532 |
Exac | rs587776532 |
Gnomad | rs587776532 |
Varsome | rs587776532 |
LitVar | rs587776532 |
Map | rs587776532 |
PheGenI | rs587776532 |
Biobank | rs587776532 |
1000 genomes | rs587776532 |
hgdp | rs587776532 |
ensembl | rs587776532 |
geneview | rs587776532 |
scholar | rs587776532 |
rs587776532 | |
pharmgkb | rs587776532 |
gwascentral | rs587776532 |
openSNP | rs587776532 |
23andMe | rs587776532 |
SNPshot | rs587776532 |
SNPdbe | rs587776532 |
MSV3d | rs587776532 |
GWAS Ctlg | rs587776532 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776532(A;A) rs587776532(-;-) |
Alt | Rs587776532(A;A) rs587776532(-;-) |
Reference | Rs587776532(T;T) |
Significance | Pathogenic |
Disease | Trichothiodystrophy |
Variation | info |
Gene | SUGCT MPLKIP |
CLNDBN | Trichothiodystrophy, nonphotosensitive 1 |
Reversed | 1 |
HGVS | NC_000007.13:g.40173890delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001921.5, |