rs1057518898
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057518898(A;A) |
Make rs1057518898(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 103256241 |
Gene | DYNC2H1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057518898 |
dbSNP (classic) | rs1057518898 |
ClinGen | rs1057518898 |
ebi | rs1057518898 |
HLI | rs1057518898 |
Exac | rs1057518898 |
Gnomad | rs1057518898 |
Varsome | rs1057518898 |
LitVar | rs1057518898 |
Map | rs1057518898 |
PheGenI | rs1057518898 |
Biobank | rs1057518898 |
1000 genomes | rs1057518898 |
hgdp | rs1057518898 |
ensembl | rs1057518898 |
geneview | rs1057518898 |
scholar | rs1057518898 |
rs1057518898 | |
pharmgkb | rs1057518898 |
gwascentral | rs1057518898 |
openSNP | rs1057518898 |
23andMe | rs1057518898 |
SNPshot | rs1057518898 |
SNPdbe | rs1057518898 |
MSV3d | rs1057518898 |
GWAS Ctlg | rs1057518898 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518898(A;A) |
Alt | rs1057518898(A;A) |
Reference | Rs1057518898(G;G) |
Significance | Pathogenic |
Disease | Bowing of the long bones Intrauterine growth retardation Narrow chest |
Variation | info |
Gene | DYNC2H1 |
CLNDBN | Bowing of the long bones Intrauterine growth retardation Narrow chest |
Reversed | 0 |
HGVS | NC_000011.9:g.103126970G>A |
CLNSRC | |
CLNACC | RCV000415006.1, |