rs878853127
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs878853127(G;G) |
Make rs878853127(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 101068026 |
Gene | NALCN |
is a | snp |
is | mentioned by |
dbSNP | rs878853127 |
dbSNP (classic) | rs878853127 |
ClinGen | rs878853127 |
ebi | rs878853127 |
HLI | rs878853127 |
Exac | rs878853127 |
Gnomad | rs878853127 |
Varsome | rs878853127 |
LitVar | rs878853127 |
Map | rs878853127 |
PheGenI | rs878853127 |
Biobank | rs878853127 |
1000 genomes | rs878853127 |
hgdp | rs878853127 |
ensembl | rs878853127 |
geneview | rs878853127 |
scholar | rs878853127 |
rs878853127 | |
pharmgkb | rs878853127 |
gwascentral | rs878853127 |
openSNP | rs878853127 |
23andMe | rs878853127 |
SNPshot | rs878853127 |
SNPdbe | rs878853127 |
MSV3d | rs878853127 |
GWAS Ctlg | rs878853127 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853127(G;G) |
Alt | rs878853127(G;G) |
Reference | Rs878853127(T;T) |
Significance | Pathogenic |
Disease | Congenital contractures of the limbs and face |
Variation | info |
Gene | NALCN |
CLNDBN | Congenital contractures of the limbs and face, hypotonia, and developmental delay |
Reversed | 1 |
HGVS | NC_000013.10:g.101720378A>C |
CLNSRC | |
CLNACC | RCV000224385.1, |