rs387906752
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906752(C;T) |
Make rs387906752(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 187236382 |
Gene | MASP1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906752 |
dbSNP (classic) | rs387906752 |
ClinGen | rs387906752 |
ebi | rs387906752 |
HLI | rs387906752 |
Exac | rs387906752 |
Gnomad | rs387906752 |
Varsome | rs387906752 |
LitVar | rs387906752 |
Map | rs387906752 |
PheGenI | rs387906752 |
Biobank | rs387906752 |
1000 genomes | rs387906752 |
hgdp | rs387906752 |
ensembl | rs387906752 |
geneview | rs387906752 |
scholar | rs387906752 |
rs387906752 | |
pharmgkb | rs387906752 |
gwascentral | rs387906752 |
openSNP | rs387906752 |
23andMe | rs387906752 |
SNPshot | rs387906752 |
SNPdbe | rs387906752 |
MSV3d | rs387906752 |
GWAS Ctlg | rs387906752 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906752(T;T) |
Alt | rs387906752(T;T) |
Reference | Rs387906752(C;C) |
Significance | Pathogenic |
Disease | Michels syndrome |
Variation | info |
Gene | MASP1 |
CLNDBN | Michels syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.186954170G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022977.3, |