rs78289603
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs78289603(C;C) |
Make rs78289603(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 46907878 |
Gene | MCFD2 |
is a | snp |
is | mentioned by |
dbSNP | rs78289603 |
dbSNP (classic) | rs78289603 |
ClinGen | rs78289603 |
ebi | rs78289603 |
HLI | rs78289603 |
Exac | rs78289603 |
Gnomad | rs78289603 |
Varsome | rs78289603 |
LitVar | rs78289603 |
Map | rs78289603 |
PheGenI | rs78289603 |
Biobank | rs78289603 |
1000 genomes | rs78289603 |
hgdp | rs78289603 |
ensembl | rs78289603 |
geneview | rs78289603 |
scholar | rs78289603 |
rs78289603 | |
pharmgkb | rs78289603 |
gwascentral | rs78289603 |
openSNP | rs78289603 |
23andMe | rs78289603 |
SNPshot | rs78289603 |
SNPdbe | rs78289603 |
MSV3d | rs78289603 |
GWAS Ctlg | rs78289603 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs78289603(C;C) rs78289603(T;T) |
Alt | rs78289603(C;C) rs78289603(T;T) |
Reference | Rs78289603(G;G) |
Significance | Pathogenic |
Disease | Factor v and factor viii |
Variation | info |
Gene | MCFD2 |
CLNDBN | Factor v and factor viii, combined deficiency of, 2 |
Reversed | 1 |
HGVS | NC_000002.11:g.47135017C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003006.2, |