rs201921029
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201921029(A;A) |
Make rs201921029(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 13929607 |
Gene | CC2D1A |
is a | snp |
is | mentioned by |
dbSNP | rs201921029 |
dbSNP (classic) | rs201921029 |
ClinGen | rs201921029 |
ebi | rs201921029 |
HLI | rs201921029 |
Exac | rs201921029 |
Gnomad | rs201921029 |
Varsome | rs201921029 |
LitVar | rs201921029 |
Map | rs201921029 |
PheGenI | rs201921029 |
Biobank | rs201921029 |
1000 genomes | rs201921029 |
hgdp | rs201921029 |
ensembl | rs201921029 |
geneview | rs201921029 |
scholar | rs201921029 |
rs201921029 | |
pharmgkb | rs201921029 |
gwascentral | rs201921029 |
openSNP | rs201921029 |
23andMe | rs201921029 |
SNPshot | rs201921029 |
SNPdbe | rs201921029 |
MSV3d | rs201921029 |
GWAS Ctlg | rs201921029 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201921029(A;A) |
Alt | rs201921029(A;A) |
Reference | Rs201921029(G;G) |
Significance | Pathogenic |
Disease | Smith-Magenis Syndrome-like |
Variation | info |
Gene | CC2D1A |
CLNDBN | Smith-Magenis Syndrome-like |
Reversed | 0 |
HGVS | NC_000019.9:g.14040420G>A |
CLNSRC | |
CLNACC | RCV000491719.1, |