rs786204798
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786204798(C;T) |
Make rs786204798(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 48768972 |
Gene | ADCY6 |
is a | snp |
is | mentioned by |
dbSNP | rs786204798 |
dbSNP (classic) | rs786204798 |
ClinGen | rs786204798 |
ebi | rs786204798 |
HLI | rs786204798 |
Exac | rs786204798 |
Gnomad | rs786204798 |
Varsome | rs786204798 |
LitVar | rs786204798 |
Map | rs786204798 |
PheGenI | rs786204798 |
Biobank | rs786204798 |
1000 genomes | rs786204798 |
hgdp | rs786204798 |
ensembl | rs786204798 |
geneview | rs786204798 |
scholar | rs786204798 |
rs786204798 | |
pharmgkb | rs786204798 |
gwascentral | rs786204798 |
openSNP | rs786204798 |
23andMe | rs786204798 |
SNPshot | rs786204798 |
SNPdbe | rs786204798 |
MSV3d | rs786204798 |
GWAS Ctlg | rs786204798 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204798(T;T) |
Alt | rs786204798(T;T) |
Reference | Rs786204798(C;C) |
Significance | Pathogenic |
Disease | Lethal congenital contracture syndrome 8 |
Variation | info |
Gene | ADCY6 |
CLNDBN | Lethal congenital contracture syndrome 8 |
Reversed | 1 |
HGVS | NC_000012.11:g.49162755G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000169693.3, |