rs730882173
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730882173(C;C) |
Make rs730882173(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 210919955 |
Gene | KCNH1 |
is a | snp |
is | mentioned by |
dbSNP | rs730882173 |
dbSNP (classic) | rs730882173 |
ClinGen | rs730882173 |
ebi | rs730882173 |
HLI | rs730882173 |
Exac | rs730882173 |
Gnomad | rs730882173 |
Varsome | rs730882173 |
LitVar | rs730882173 |
Map | rs730882173 |
PheGenI | rs730882173 |
Biobank | rs730882173 |
1000 genomes | rs730882173 |
hgdp | rs730882173 |
ensembl | rs730882173 |
geneview | rs730882173 |
scholar | rs730882173 |
rs730882173 | |
pharmgkb | rs730882173 |
gwascentral | rs730882173 |
openSNP | rs730882173 |
23andMe | rs730882173 |
SNPshot | rs730882173 |
SNPdbe | rs730882173 |
MSV3d | rs730882173 |
GWAS Ctlg | rs730882173 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882173(C;C) |
Alt | rs730882173(C;C) |
Reference | Rs730882173(G;G) |
Significance | Pathogenic |
Disease | Zimmermann-Laband syndrome 1 |
Variation | info |
Gene | KCNH1 |
CLNDBN | Zimmermann-Laband syndrome 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.211093297C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000185594.4, RCV000190320.1, |