rs374740802
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs374740802(C;G) |
Make rs374740802(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 177210749 |
Gene | NSD1 |
is a | snp |
is | mentioned by |
dbSNP | rs374740802 |
dbSNP (classic) | rs374740802 |
ClinGen | rs374740802 |
ebi | rs374740802 |
HLI | rs374740802 |
Exac | rs374740802 |
Gnomad | rs374740802 |
Varsome | rs374740802 |
LitVar | rs374740802 |
Map | rs374740802 |
PheGenI | rs374740802 |
Biobank | rs374740802 |
1000 genomes | rs374740802 |
hgdp | rs374740802 |
ensembl | rs374740802 |
geneview | rs374740802 |
scholar | rs374740802 |
rs374740802 | |
pharmgkb | rs374740802 |
gwascentral | rs374740802 |
openSNP | rs374740802 |
23andMe | rs374740802 |
SNPshot | rs374740802 |
SNPdbe | rs374740802 |
MSV3d | rs374740802 |
GWAS Ctlg | rs374740802 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs374740802(G;G) rs374740802(T;T) |
Alt | rs374740802(G;G) rs374740802(T;T) |
Reference | Rs374740802(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Beckwith-Wiedemann syndrome Sotos syndrome 1 |
Variation | info |
Gene | NSD1 |
CLNDBN | not specified Beckwith-Wiedemann syndrome Sotos syndrome 1 |
Reversed | 0 |
HGVS | NC_000005.9:g.176637750C>G; NC_000005.9:g.176637750C>T |
CLNSRC | |
CLNACC | RCV000082110.4, RCV000195430.1, |