rs2227935
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs2227935(C;C) |
Make rs2227935(C;T) |
Make rs2227935(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 90782869 |
Gene | BLM |
is a | snp |
is | mentioned by |
dbSNP | rs2227935 |
dbSNP (classic) | rs2227935 |
ClinGen | rs2227935 |
ebi | rs2227935 |
HLI | rs2227935 |
Exac | rs2227935 |
Gnomad | rs2227935 |
Varsome | rs2227935 |
LitVar | rs2227935 |
Map | rs2227935 |
PheGenI | rs2227935 |
Biobank | rs2227935 |
1000 genomes | rs2227935 |
hgdp | rs2227935 |
ensembl | rs2227935 |
geneview | rs2227935 |
scholar | rs2227935 |
rs2227935 | |
pharmgkb | rs2227935 |
gwascentral | rs2227935 |
openSNP | rs2227935 |
23andMe | rs2227935 |
SNPshot | rs2227935 |
SNPdbe | rs2227935 |
MSV3d | rs2227935 |
GWAS Ctlg | rs2227935 |
Merged from | Rs11852361 |
GMAF | 0.05326 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2227935(G;G) rs2227935(T;T) |
Alt | rs2227935(G;G) rs2227935(T;T) |
Reference | rs2227935(C;C) |
Significance | Other |
Disease | not specified Bloom syndrome |
Variation | info |
Gene | BLM |
CLNDBN | not specified Bloom syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.91326099C>T |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000078058.9, RCV000144575.2, |