rs768342562
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs768342562(-;T) |
Make rs768342562(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 40133093 |
Gene | MPLKIP, SUGCT |
is a | snp |
is | mentioned by |
dbSNP | rs768342562 |
dbSNP (classic) | rs768342562 |
ClinGen | rs768342562 |
ebi | rs768342562 |
HLI | rs768342562 |
Exac | rs768342562 |
Gnomad | rs768342562 |
Varsome | rs768342562 |
LitVar | rs768342562 |
Map | rs768342562 |
PheGenI | rs768342562 |
Biobank | rs768342562 |
1000 genomes | rs768342562 |
hgdp | rs768342562 |
ensembl | rs768342562 |
geneview | rs768342562 |
scholar | rs768342562 |
rs768342562 | |
pharmgkb | rs768342562 |
gwascentral | rs768342562 |
openSNP | rs768342562 |
23andMe | rs768342562 |
SNPshot | rs768342562 |
SNPdbe | rs768342562 |
MSV3d | rs768342562 |
GWAS Ctlg | rs768342562 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768342562(T;T) |
Alt | rs768342562(T;T) |
Reference | Rs768342562(-;-) |
Significance | Pathogenic |
Disease | Trichothiodystrophy 1 |
Variation | info |
Gene | SUGCT MPLKIP |
CLNDBN | Trichothiodystrophy 1, photosensitive |
Reversed | 0 |
HGVS | NC_000007.13:g.40172693dupT |
CLNSRC | |
CLNACC | RCV000202381.1, |