rs35669711
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common on affy axiom data |
(C;T) | 0 | Likely to be benign according to ClinVar |
Make rs35669711(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 21852751 |
Gene | HSPG2 |
is a | snp |
is | mentioned by |
dbSNP | rs35669711 |
dbSNP (classic) | rs35669711 |
ClinGen | rs35669711 |
ebi | rs35669711 |
HLI | rs35669711 |
Exac | rs35669711 |
Gnomad | rs35669711 |
Varsome | rs35669711 |
LitVar | rs35669711 |
Map | rs35669711 |
PheGenI | rs35669711 |
Biobank | rs35669711 |
1000 genomes | rs35669711 |
hgdp | rs35669711 |
ensembl | rs35669711 |
geneview | rs35669711 |
scholar | rs35669711 |
rs35669711 | |
pharmgkb | rs35669711 |
gwascentral | rs35669711 |
openSNP | rs35669711 |
23andMe | rs35669711 |
SNPshot | rs35669711 |
SNPdbe | rs35669711 |
MSV3d | rs35669711 |
GWAS Ctlg | rs35669711 |
GMAF | 0.0225 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35669711(T;T) |
Alt | rs35669711(T;T) |
Reference | Rs35669711(C;C) |
Significance | Probable-non-pathogenic |
Disease | Schwartz Jampel syndrome type 1 Dyssegmental Dysplasia |
Variation | info |
Gene | HSPG2 |
CLNDBN | Schwartz Jampel syndrome type 1 Dyssegmental Dysplasia |
Reversed | 0 |
HGVS | NC_000001.10:g.22179244C>T |
CLNSRC | |
CLNACC | RCV000306325.1, RCV000398821.1, |