rs727502854
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs727502854(-;A) |
Make rs727502854(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 131518949 |
Gene | LOC105376301, POMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs727502854 |
dbSNP (classic) | rs727502854 |
ClinGen | rs727502854 |
ebi | rs727502854 |
HLI | rs727502854 |
Exac | rs727502854 |
Gnomad | rs727502854 |
Varsome | rs727502854 |
LitVar | rs727502854 |
Map | rs727502854 |
PheGenI | rs727502854 |
Biobank | rs727502854 |
1000 genomes | rs727502854 |
hgdp | rs727502854 |
ensembl | rs727502854 |
geneview | rs727502854 |
scholar | rs727502854 |
rs727502854 | |
pharmgkb | rs727502854 |
gwascentral | rs727502854 |
openSNP | rs727502854 |
23andMe | rs727502854 |
SNPshot | rs727502854 |
SNPdbe | rs727502854 |
MSV3d | rs727502854 |
GWAS Ctlg | rs727502854 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502854(A;A) |
Alt | rs727502854(A;A) |
Reference | Rs727502854(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | POMT1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.134394336dupA |
CLNSRC | |
CLNACC | RCV000150017.2, |