rs148969222
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs148969222(G;T) |
Make rs148969222(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 90803721 |
Gene | BLM |
is a | snp |
is | mentioned by |
dbSNP | rs148969222 |
dbSNP (classic) | rs148969222 |
ClinGen | rs148969222 |
ebi | rs148969222 |
HLI | rs148969222 |
Exac | rs148969222 |
Gnomad | rs148969222 |
Varsome | rs148969222 |
LitVar | rs148969222 |
Map | rs148969222 |
PheGenI | rs148969222 |
Biobank | rs148969222 |
1000 genomes | rs148969222 |
hgdp | rs148969222 |
ensembl | rs148969222 |
geneview | rs148969222 |
scholar | rs148969222 |
rs148969222 | |
pharmgkb | rs148969222 |
gwascentral | rs148969222 |
openSNP | rs148969222 |
23andMe | rs148969222 |
SNPshot | rs148969222 |
SNPdbe | rs148969222 |
MSV3d | rs148969222 |
GWAS Ctlg | rs148969222 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148969222(A;A) rs148969222(T;T) |
Alt | rs148969222(A;A) rs148969222(T;T) |
Reference | Rs148969222(G;G) |
Significance | Other |
Disease | Bloom syndrome |
Variation | info |
Gene | BLM |
CLNDBN | Bloom syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.91346951G>A; NC_000015.9:g.91346951G>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034911.1, RCV000205550.3, |