rs797044949
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797044949(G;T) |
Make rs797044949(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 94412078 |
Gene | COL1A2 |
is a | snp |
is | mentioned by |
dbSNP | rs797044949 |
dbSNP (classic) | rs797044949 |
ClinGen | rs797044949 |
ebi | rs797044949 |
HLI | rs797044949 |
Exac | rs797044949 |
Gnomad | rs797044949 |
Varsome | rs797044949 |
LitVar | rs797044949 |
Map | rs797044949 |
PheGenI | rs797044949 |
Biobank | rs797044949 |
1000 genomes | rs797044949 |
hgdp | rs797044949 |
ensembl | rs797044949 |
geneview | rs797044949 |
scholar | rs797044949 |
rs797044949 | |
pharmgkb | rs797044949 |
gwascentral | rs797044949 |
openSNP | rs797044949 |
23andMe | rs797044949 |
SNPshot | rs797044949 |
SNPdbe | rs797044949 |
MSV3d | rs797044949 |
GWAS Ctlg | rs797044949 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044949(T;T) |
Alt | rs797044949(T;T) |
Reference | Rs797044949(G;G) |
Significance | Pathogenic |
Disease | Inborn genetic diseases |
Variation | info |
Gene | COL1A2 |
CLNDBN | Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000007.13:g.94041390G>T |
CLNSRC | |
CLNACC | RCV000190801.1, |