rs1057520339
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057520339(C;T) |
Make rs1057520339(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 177210761 |
Gene | NSD1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057520339 |
dbSNP (classic) | rs1057520339 |
ClinGen | rs1057520339 |
ebi | rs1057520339 |
HLI | rs1057520339 |
Exac | rs1057520339 |
Gnomad | rs1057520339 |
Varsome | rs1057520339 |
LitVar | rs1057520339 |
Map | rs1057520339 |
PheGenI | rs1057520339 |
Biobank | rs1057520339 |
1000 genomes | rs1057520339 |
hgdp | rs1057520339 |
ensembl | rs1057520339 |
geneview | rs1057520339 |
scholar | rs1057520339 |
rs1057520339 | |
pharmgkb | rs1057520339 |
gwascentral | rs1057520339 |
openSNP | rs1057520339 |
23andMe | rs1057520339 |
SNPshot | rs1057520339 |
SNPdbe | rs1057520339 |
MSV3d | rs1057520339 |
GWAS Ctlg | rs1057520339 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057520339(T;T) |
Alt | rs1057520339(T;T) |
Reference | Rs1057520339(C;C) |
Significance | Pathogenic |
Disease | not provided Beckwith-Wiedemann syndrome |
Variation | info |
Gene | NSD1 |
CLNDBN | not provided Beckwith-Wiedemann syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.176637762C>T |
CLNSRC | |
CLNACC | RCV000436276.1, RCV000460451.1, |