rs760670617
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs760670617(C;C) |
Make rs760670617(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 118723570 |
Gene | SEC24D |
is a | snp |
is | mentioned by |
dbSNP | rs760670617 |
dbSNP (classic) | rs760670617 |
ClinGen | rs760670617 |
ebi | rs760670617 |
HLI | rs760670617 |
Exac | rs760670617 |
Gnomad | rs760670617 |
Varsome | rs760670617 |
LitVar | rs760670617 |
Map | rs760670617 |
PheGenI | rs760670617 |
Biobank | rs760670617 |
1000 genomes | rs760670617 |
hgdp | rs760670617 |
ensembl | rs760670617 |
geneview | rs760670617 |
scholar | rs760670617 |
rs760670617 | |
pharmgkb | rs760670617 |
gwascentral | rs760670617 |
openSNP | rs760670617 |
23andMe | rs760670617 |
SNPshot | rs760670617 |
SNPdbe | rs760670617 |
MSV3d | rs760670617 |
GWAS Ctlg | rs760670617 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs760670617(A;A) rs760670617(C;C) |
Alt | rs760670617(A;A) rs760670617(C;C) |
Reference | Rs760670617(G;G) |
Significance | Pathogenic |
Disease | Cole-Carpenter syndrome 2 |
Variation | info |
Gene | SEC24D |
CLNDBN | Cole-Carpenter syndrome 2 |
Reversed | 0 |
HGVS | NC_000004.11:g.119644725G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000169755.3, |