rs869312873
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs869312873(A;A) |
Make rs869312873(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 101089846 |
Gene | NALCN |
is a | snp |
is | mentioned by |
dbSNP | rs869312873 |
dbSNP (classic) | rs869312873 |
ClinGen | rs869312873 |
ebi | rs869312873 |
HLI | rs869312873 |
Exac | rs869312873 |
Gnomad | rs869312873 |
Varsome | rs869312873 |
LitVar | rs869312873 |
Map | rs869312873 |
PheGenI | rs869312873 |
Biobank | rs869312873 |
1000 genomes | rs869312873 |
hgdp | rs869312873 |
ensembl | rs869312873 |
geneview | rs869312873 |
scholar | rs869312873 |
rs869312873 | |
pharmgkb | rs869312873 |
gwascentral | rs869312873 |
openSNP | rs869312873 |
23andMe | rs869312873 |
SNPshot | rs869312873 |
SNPdbe | rs869312873 |
MSV3d | rs869312873 |
GWAS Ctlg | rs869312873 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312873(A;A) |
Alt | rs869312873(A;A) |
Reference | Rs869312873(G;G) |
Significance | Pathogenic |
Disease | Abnormal pattern of respiration Cachexia Intellectual disability Seizures Strabismus |
Variation | info |
Gene | NALCN |
CLNDBN | Abnormal pattern of respiration Cachexia Intellectual disability, severe Seizures Strabismus |
Reversed | 1 |
HGVS | NC_000013.10:g.101742197C>T |
CLNSRC | |
CLNACC | RCV000210426.1, |