rs869025188
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs869025188(-;-) |
Make rs869025188(-;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 101229530 |
Gene | NALCN |
is a | snp |
is | mentioned by |
dbSNP | rs869025188 |
dbSNP (classic) | rs869025188 |
ClinGen | rs869025188 |
ebi | rs869025188 |
HLI | rs869025188 |
Exac | rs869025188 |
Gnomad | rs869025188 |
Varsome | rs869025188 |
LitVar | rs869025188 |
Map | rs869025188 |
PheGenI | rs869025188 |
Biobank | rs869025188 |
1000 genomes | rs869025188 |
hgdp | rs869025188 |
ensembl | rs869025188 |
geneview | rs869025188 |
scholar | rs869025188 |
rs869025188 | |
pharmgkb | rs869025188 |
gwascentral | rs869025188 |
openSNP | rs869025188 |
23andMe | rs869025188 |
SNPshot | rs869025188 |
SNPdbe | rs869025188 |
MSV3d | rs869025188 |
GWAS Ctlg | rs869025188 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025188(-;-) |
Alt | rs869025188(-;-) |
Reference | Rs869025188(T;T) |
Significance | Pathogenic |
Disease | Hypotonia not provided |
Variation | info |
Gene | NALCN |
CLNDBN | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 not provided |
Reversed | 1 |
HGVS | NC_000013.10:g.101881881delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074369.3, RCV000414660.1, |