rs886048933
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs886048933(C;T) |
Make rs886048933(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 109595046 |
Gene | MVK |
is a | snp |
is | mentioned by |
dbSNP | rs886048933 |
dbSNP (classic) | rs886048933 |
ClinGen | rs886048933 |
ebi | rs886048933 |
HLI | rs886048933 |
Exac | rs886048933 |
Gnomad | rs886048933 |
Varsome | rs886048933 |
LitVar | rs886048933 |
Map | rs886048933 |
PheGenI | rs886048933 |
Biobank | rs886048933 |
1000 genomes | rs886048933 |
hgdp | rs886048933 |
ensembl | rs886048933 |
geneview | rs886048933 |
scholar | rs886048933 |
rs886048933 | |
pharmgkb | rs886048933 |
gwascentral | rs886048933 |
openSNP | rs886048933 |
23andMe | rs886048933 |
SNPshot | rs886048933 |
SNPdbe | rs886048933 |
MSV3d | rs886048933 |
GWAS Ctlg | rs886048933 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886048933(T;T) |
Alt | rs886048933(T;T) |
Reference | Rs886048933(C;C) |
Significance | Probable-Pathogenic |
Disease | MVK-Related Disorders not provided |
Variation | info |
Gene | MVK |
CLNDBN | MVK-Related Disorders not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.110032851C>T |
CLNSRC | |
CLNACC | RCV000305900.1, RCV000489947.1, |