rs757744435
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs757744435(A;T) |
Make rs757744435(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 35794009 |
Gene | NPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs757744435 |
dbSNP (classic) | rs757744435 |
ClinGen | rs757744435 |
ebi | rs757744435 |
HLI | rs757744435 |
Exac | rs757744435 |
Gnomad | rs757744435 |
Varsome | rs757744435 |
LitVar | rs757744435 |
Map | rs757744435 |
PheGenI | rs757744435 |
Biobank | rs757744435 |
1000 genomes | rs757744435 |
hgdp | rs757744435 |
ensembl | rs757744435 |
geneview | rs757744435 |
scholar | rs757744435 |
rs757744435 | |
pharmgkb | rs757744435 |
gwascentral | rs757744435 |
openSNP | rs757744435 |
23andMe | rs757744435 |
SNPshot | rs757744435 |
SNPdbe | rs757744435 |
MSV3d | rs757744435 |
GWAS Ctlg | rs757744435 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757744435(G;G) rs757744435(T;T) |
Alt | rs757744435(G;G) rs757744435(T;T) |
Reference | Rs757744435(A;A) |
Significance | Probable-Pathogenic |
Disease | Craniosynostosis Growth delay Limb undergrowth Trident hand |
Variation | info |
Gene | NPR2 |
CLNDBN | Craniosynostosis Growth delay Limb undergrowth Trident hand |
Reversed | 0 |
HGVS | NC_000009.11:g.35794006A>T |
CLNSRC | |
CLNACC | RCV000414841.1, |