rs746231039
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs746231039(-;-) |
Make rs746231039(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 130593027 |
Gene | CFC1, POTEI |
is a | snp |
is | mentioned by |
dbSNP | rs746231039 |
dbSNP (classic) | rs746231039 |
ClinGen | rs746231039 |
ebi | rs746231039 |
HLI | rs746231039 |
Exac | rs746231039 |
Gnomad | rs746231039 |
Varsome | rs746231039 |
LitVar | rs746231039 |
Map | rs746231039 |
PheGenI | rs746231039 |
Biobank | rs746231039 |
1000 genomes | rs746231039 |
hgdp | rs746231039 |
ensembl | rs746231039 |
geneview | rs746231039 |
scholar | rs746231039 |
rs746231039 | |
pharmgkb | rs746231039 |
gwascentral | rs746231039 |
openSNP | rs746231039 |
23andMe | rs746231039 |
SNPshot | rs746231039 |
SNPdbe | rs746231039 |
MSV3d | rs746231039 |
GWAS Ctlg | rs746231039 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746231039(-;-) |
Alt | rs746231039(-;-) |
Reference | Rs746231039(G;G) |
Significance | Pathogenic |
Disease | Heterotaxy |
Variation | info |
Gene | CFC1 |
CLNDBN | Heterotaxy, visceral, 2, autosomal |
Reversed | 0 |
HGVS | NC_000002.11:g.131350600delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005497.4, |