rs28935171
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | |
(G;G) | 0 | common in clinvar |
Make rs28935171(A;A) |
Make rs28935171(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 20155435 |
Gene | RPS6KA3 |
is a | snp |
is | mentioned by |
dbSNP | rs28935171 |
dbSNP (classic) | rs28935171 |
ClinGen | rs28935171 |
ebi | rs28935171 |
HLI | rs28935171 |
Exac | rs28935171 |
Gnomad | rs28935171 |
Varsome | rs28935171 |
LitVar | rs28935171 |
Map | rs28935171 |
PheGenI | rs28935171 |
Biobank | rs28935171 |
1000 genomes | rs28935171 |
hgdp | rs28935171 |
ensembl | rs28935171 |
geneview | rs28935171 |
scholar | rs28935171 |
rs28935171 | |
pharmgkb | rs28935171 |
gwascentral | rs28935171 |
openSNP | rs28935171 |
23andMe | rs28935171 |
SNPshot | rs28935171 |
SNPdbe | rs28935171 |
MSV3d | rs28935171 |
GWAS Ctlg | rs28935171 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28935171(A;A) |
Alt | rs28935171(A;A) |
Reference | Rs28935171(G;G) |
Significance | Pathogenic |
Disease | Coffin-Lowry syndrome not provided |
Variation | info |
Gene | RPS6KA3 |
CLNDBN | Coffin-Lowry syndrome not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.20173553C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012424.23, RCV000413967.1, |