rs1057518817
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTGGTCCTTTC;GTGGTCCTTTC) | 0 | common in clinvar |
Make rs1057518817(-;-) |
Make rs1057518817(-;GTGGTCCTTTC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 35805944 |
Gene | NPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057518817 |
dbSNP (classic) | rs1057518817 |
ClinGen | rs1057518817 |
ebi | rs1057518817 |
HLI | rs1057518817 |
Exac | rs1057518817 |
Gnomad | rs1057518817 |
Varsome | rs1057518817 |
LitVar | rs1057518817 |
Map | rs1057518817 |
PheGenI | rs1057518817 |
Biobank | rs1057518817 |
1000 genomes | rs1057518817 |
hgdp | rs1057518817 |
ensembl | rs1057518817 |
geneview | rs1057518817 |
scholar | rs1057518817 |
rs1057518817 | |
pharmgkb | rs1057518817 |
gwascentral | rs1057518817 |
openSNP | rs1057518817 |
23andMe | rs1057518817 |
SNPshot | rs1057518817 |
SNPdbe | rs1057518817 |
MSV3d | rs1057518817 |
GWAS Ctlg | rs1057518817 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518817(-;-) |
Alt | rs1057518817(-;-) |
Reference | Rs1057518817(GTGGTCCTTTC;GTGGTCCTTTC) |
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.35805941_35805951delGTGGTCCTTTC |
CLNSRC | |
CLNACC | RCV000415200.1, |