rs67162110
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs67162110(A;A) |
Make rs67162110(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 94412122 |
Gene | COL1A2 |
is a | snp |
is | mentioned by |
dbSNP | rs67162110 |
dbSNP (classic) | rs67162110 |
ClinGen | rs67162110 |
ebi | rs67162110 |
HLI | rs67162110 |
Exac | rs67162110 |
Gnomad | rs67162110 |
Varsome | rs67162110 |
LitVar | rs67162110 |
Map | rs67162110 |
PheGenI | rs67162110 |
Biobank | rs67162110 |
1000 genomes | rs67162110 |
hgdp | rs67162110 |
ensembl | rs67162110 |
geneview | rs67162110 |
scholar | rs67162110 |
rs67162110 | |
pharmgkb | rs67162110 |
gwascentral | rs67162110 |
openSNP | rs67162110 |
23andMe | rs67162110 |
SNPshot | rs67162110 |
SNPdbe | rs67162110 |
MSV3d | rs67162110 |
GWAS Ctlg | rs67162110 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs67162110(A;A) rs67162110(C;C) |
Alt | rs67162110(A;A) rs67162110(C;C) |
Reference | Rs67162110(G;G) |
Significance | Pathogenic |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | COL1A2 |
CLNDBN | Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form |
Reversed | 0 |
HGVS | NC_000007.13:g.94041434G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018816.29, |