rs587776867
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587776867(A;G) |
Make rs587776867(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 21882618 |
Gene | MBTPS2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776867 |
dbSNP (classic) | rs587776867 |
ClinGen | rs587776867 |
ebi | rs587776867 |
HLI | rs587776867 |
Exac | rs587776867 |
Gnomad | rs587776867 |
Varsome | rs587776867 |
LitVar | rs587776867 |
Map | rs587776867 |
PheGenI | rs587776867 |
Biobank | rs587776867 |
1000 genomes | rs587776867 |
hgdp | rs587776867 |
ensembl | rs587776867 |
geneview | rs587776867 |
scholar | rs587776867 |
rs587776867 | |
pharmgkb | rs587776867 |
gwascentral | rs587776867 |
openSNP | rs587776867 |
23andMe | rs587776867 |
SNPshot | rs587776867 |
SNPdbe | rs587776867 |
MSV3d | rs587776867 |
GWAS Ctlg | rs587776867 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776867(G;G) rs587776867(T;T) |
Alt | rs587776867(G;G) rs587776867(T;T) |
Reference | Rs587776867(A;A) |
Significance | Pathogenic |
Disease | Keratosis pilaris decalvans not provided |
Variation | info |
Gene | MBTPS2 |
CLNDBN | Keratosis pilaris decalvans not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.21900736A>G; NC_000023.10:g.21900736A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022848.3, RCV000254794.1, RCV000421935.1, |