rs66820119
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs66820119(A;A) |
Make rs66820119(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 94401566 |
Gene | COL1A2 |
is a | snp |
is | mentioned by |
dbSNP | rs66820119 |
dbSNP (classic) | rs66820119 |
ClinGen | rs66820119 |
ebi | rs66820119 |
HLI | rs66820119 |
Exac | rs66820119 |
Gnomad | rs66820119 |
Varsome | rs66820119 |
LitVar | rs66820119 |
Map | rs66820119 |
PheGenI | rs66820119 |
Biobank | rs66820119 |
1000 genomes | rs66820119 |
hgdp | rs66820119 |
ensembl | rs66820119 |
geneview | rs66820119 |
scholar | rs66820119 |
rs66820119 | |
pharmgkb | rs66820119 |
gwascentral | rs66820119 |
openSNP | rs66820119 |
23andMe | rs66820119 |
SNPshot | rs66820119 |
SNPdbe | rs66820119 |
MSV3d | rs66820119 |
GWAS Ctlg | rs66820119 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs66820119(A;A) rs66820119(C;C) |
Alt | rs66820119(A;A) rs66820119(C;C) |
Reference | Rs66820119(G;G) |
Significance | Pathogenic |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | COL1A2 |
CLNDBN | Ehlers-Danlos syndrome, type 7B |
Reversed | 0 |
HGVS | NC_000007.13:g.94030878G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018797.30, |