rs148748724
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs148748724(A;A) |
Make rs148748724(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 7526607 |
Gene | LOC105372261, MCOLN1 |
is a | snp |
is | mentioned by |
dbSNP | rs148748724 |
dbSNP (classic) | rs148748724 |
ClinGen | rs148748724 |
ebi | rs148748724 |
HLI | rs148748724 |
Exac | rs148748724 |
Gnomad | rs148748724 |
Varsome | rs148748724 |
LitVar | rs148748724 |
Map | rs148748724 |
PheGenI | rs148748724 |
Biobank | rs148748724 |
1000 genomes | rs148748724 |
hgdp | rs148748724 |
ensembl | rs148748724 |
geneview | rs148748724 |
scholar | rs148748724 |
rs148748724 | |
pharmgkb | rs148748724 |
gwascentral | rs148748724 |
openSNP | rs148748724 |
23andMe | rs148748724 |
SNPshot | rs148748724 |
SNPdbe | rs148748724 |
MSV3d | rs148748724 |
GWAS Ctlg | rs148748724 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148748724(A;A) |
Alt | rs148748724(A;A) |
Reference | Rs148748724(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | MCOLN1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.7591493G>A |
CLNSRC | |
CLNACC | RCV000485641.1, |