rs746195311
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs746195311(A;A) |
Make rs746195311(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 90749473 |
Gene | BLM |
is a | snp |
is | mentioned by |
dbSNP | rs746195311 |
dbSNP (classic) | rs746195311 |
ClinGen | rs746195311 |
ebi | rs746195311 |
HLI | rs746195311 |
Exac | rs746195311 |
Gnomad | rs746195311 |
Varsome | rs746195311 |
LitVar | rs746195311 |
Map | rs746195311 |
PheGenI | rs746195311 |
Biobank | rs746195311 |
1000 genomes | rs746195311 |
hgdp | rs746195311 |
ensembl | rs746195311 |
geneview | rs746195311 |
scholar | rs746195311 |
rs746195311 | |
pharmgkb | rs746195311 |
gwascentral | rs746195311 |
openSNP | rs746195311 |
23andMe | rs746195311 |
SNPshot | rs746195311 |
SNPdbe | rs746195311 |
MSV3d | rs746195311 |
GWAS Ctlg | rs746195311 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746195311(A;A) |
Alt | rs746195311(A;A) |
Reference | Rs746195311(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | BLM |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.91292703G>A |
CLNSRC | |
CLNACC | RCV000171242.1, |