rs1061237
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1061237(C;C) |
Make rs1061237(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 50185414 |
Gene | COL1A1 |
is a | snp |
is | mentioned by |
dbSNP | rs1061237 |
dbSNP (classic) | rs1061237 |
ClinGen | rs1061237 |
ebi | rs1061237 |
HLI | rs1061237 |
Exac | rs1061237 |
Gnomad | rs1061237 |
Varsome | rs1061237 |
LitVar | rs1061237 |
Map | rs1061237 |
PheGenI | rs1061237 |
Biobank | rs1061237 |
1000 genomes | rs1061237 |
hgdp | rs1061237 |
ensembl | rs1061237 |
geneview | rs1061237 |
scholar | rs1061237 |
rs1061237 | |
pharmgkb | rs1061237 |
gwascentral | rs1061237 |
openSNP | rs1061237 |
23andMe | rs1061237 |
SNPshot | rs1061237 |
SNPdbe | rs1061237 |
MSV3d | rs1061237 |
GWAS Ctlg | rs1061237 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 25562121] Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil: role of COL1A1
ClinVar | |
---|---|
Risk | rs1061237(A;A) rs1061237(C;C) |
Alt | rs1061237(A;A) rs1061237(C;C) |
Reference | Rs1061237(T;T) |
Significance | Probable-non-pathogenic |
Disease | Osteogenesis Imperfecta Ehlers-Danlos syndrome Infantile cortical hyperostosis |
Variation | info |
Gene | COL1A1 |
CLNDBN | Osteogenesis Imperfecta, Dominant Ehlers-Danlos syndrome, type 7A Infantile cortical hyperostosis |
Reversed | 1 |
HGVS | NC_000017.10:g.48262775A>G |
CLNSRC | |
CLNACC | RCV000287367.1, RCV000322041.1, RCV000376642.1, |