rs786205504
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs786205504(A;T) |
Make rs786205504(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 50186832 |
Gene | COL1A1 |
is a | snp |
is | mentioned by |
dbSNP | rs786205504 |
dbSNP (classic) | rs786205504 |
ClinGen | rs786205504 |
ebi | rs786205504 |
HLI | rs786205504 |
Exac | rs786205504 |
Gnomad | rs786205504 |
Varsome | rs786205504 |
LitVar | rs786205504 |
Map | rs786205504 |
PheGenI | rs786205504 |
Biobank | rs786205504 |
1000 genomes | rs786205504 |
hgdp | rs786205504 |
ensembl | rs786205504 |
geneview | rs786205504 |
scholar | rs786205504 |
rs786205504 | |
pharmgkb | rs786205504 |
gwascentral | rs786205504 |
openSNP | rs786205504 |
23andMe | rs786205504 |
SNPshot | rs786205504 |
SNPdbe | rs786205504 |
MSV3d | rs786205504 |
GWAS Ctlg | rs786205504 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205504(T;T) |
Alt | rs786205504(T;T) |
Reference | Rs786205504(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL1A1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.48264193T>A |
CLNSRC | |
CLNACC | RCV000171259.1, |