rs1800974
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 0 | common in complete genomics |
(C;T) | 0 | |
(G;G) | 0 | common in clinvar |
Make rs1800974(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 55695573 |
Gene | ITGA7 |
is a | snp |
is | mentioned by |
dbSNP | rs1800974 |
dbSNP (classic) | rs1800974 |
ClinGen | rs1800974 |
ebi | rs1800974 |
HLI | rs1800974 |
Exac | rs1800974 |
Gnomad | rs1800974 |
Varsome | rs1800974 |
LitVar | rs1800974 |
Map | rs1800974 |
PheGenI | rs1800974 |
Biobank | rs1800974 |
1000 genomes | rs1800974 |
hgdp | rs1800974 |
ensembl | rs1800974 |
geneview | rs1800974 |
scholar | rs1800974 |
rs1800974 | |
pharmgkb | rs1800974 |
gwascentral | rs1800974 |
openSNP | rs1800974 |
23andMe | rs1800974 |
SNPshot | rs1800974 |
SNPdbe | rs1800974 |
MSV3d | rs1800974 |
GWAS Ctlg | rs1800974 |
GMAF | 0.4118 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1800974(A;A) |
Alt | rs1800974(A;A) |
Reference | Rs1800974(G;G) |
Significance | Non-pathogenic |
Disease | not specified Congenital Muscular Dystrophy |
Variation | info |
Gene | ITGA7 |
CLNDBN | not specified Congenital Muscular Dystrophy, ITGA7-related |
Reversed | 1 |
HGVS | NC_000012.11:g.56089357C>T |
CLNSRC | HGMD |
CLNACC | RCV000079979.7, RCV000392154.1, |