rs3736360
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 0 | Likely to be benign according to ClinVar |
(G;G) | 0 | common in clinvar |
Make rs3736360(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 21823627 |
Gene | HSPG2, LDLRAD2 |
is a | snp |
is | mentioned by |
dbSNP | rs3736360 |
dbSNP (classic) | rs3736360 |
ClinGen | rs3736360 |
ebi | rs3736360 |
HLI | rs3736360 |
Exac | rs3736360 |
Gnomad | rs3736360 |
Varsome | rs3736360 |
LitVar | rs3736360 |
Map | rs3736360 |
PheGenI | rs3736360 |
Biobank | rs3736360 |
1000 genomes | rs3736360 |
hgdp | rs3736360 |
ensembl | rs3736360 |
geneview | rs3736360 |
scholar | rs3736360 |
rs3736360 | |
pharmgkb | rs3736360 |
gwascentral | rs3736360 |
openSNP | rs3736360 |
23andMe | rs3736360 |
SNPshot | rs3736360 |
SNPdbe | rs3736360 |
MSV3d | rs3736360 |
GWAS Ctlg | rs3736360 |
GMAF | 0.157 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs3736360(A;A) |
Alt | rs3736360(A;A) |
Reference | Rs3736360(G;G) |
Significance | Non-pathogenic |
Disease | Dyssegmental Dysplasia Schwartz Jampel syndrome type 1 |
Variation | info |
Gene | LDLRAD2 HSPG2 |
CLNDBN | Dyssegmental Dysplasia Schwartz Jampel syndrome type 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.22150120C>T |
CLNSRC | |
CLNACC | RCV000278239.1, RCV000375072.1, |