rs72656357
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs72656357(C;C) |
Make rs72656357(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 94401622 |
Gene | COL1A2 |
is a | snp |
is | mentioned by |
dbSNP | rs72656357 |
dbSNP (classic) | rs72656357 |
ClinGen | rs72656357 |
ebi | rs72656357 |
HLI | rs72656357 |
Exac | rs72656357 |
Gnomad | rs72656357 |
Varsome | rs72656357 |
LitVar | rs72656357 |
Map | rs72656357 |
PheGenI | rs72656357 |
Biobank | rs72656357 |
1000 genomes | rs72656357 |
hgdp | rs72656357 |
ensembl | rs72656357 |
geneview | rs72656357 |
scholar | rs72656357 |
rs72656357 | |
pharmgkb | rs72656357 |
gwascentral | rs72656357 |
openSNP | rs72656357 |
23andMe | rs72656357 |
SNPshot | rs72656357 |
SNPdbe | rs72656357 |
MSV3d | rs72656357 |
GWAS Ctlg | rs72656357 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72656357(C;C) |
Alt | rs72656357(C;C) |
Reference | Rs72656357(T;T) |
Significance | Pathogenic |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | COL1A2 |
CLNDBN | Ehlers-Danlos syndrome, type 7B |
Reversed | 0 |
HGVS | NC_000007.13:g.94030934T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018773.27, |