rs146990376
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs146990376(A;A) |
Make rs146990376(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 155806384 |
Gene | SHH |
is a | snp |
is | mentioned by |
dbSNP | rs146990376 |
dbSNP (classic) | rs146990376 |
ClinGen | rs146990376 |
ebi | rs146990376 |
HLI | rs146990376 |
Exac | rs146990376 |
Gnomad | rs146990376 |
Varsome | rs146990376 |
LitVar | rs146990376 |
Map | rs146990376 |
PheGenI | rs146990376 |
Biobank | rs146990376 |
1000 genomes | rs146990376 |
hgdp | rs146990376 |
ensembl | rs146990376 |
geneview | rs146990376 |
scholar | rs146990376 |
rs146990376 | |
pharmgkb | rs146990376 |
gwascentral | rs146990376 |
openSNP | rs146990376 |
23andMe | rs146990376 |
SNPshot | rs146990376 |
SNPdbe | rs146990376 |
MSV3d | rs146990376 |
GWAS Ctlg | rs146990376 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146990376(A;A) rs146990376(C;C) |
Alt | rs146990376(A;A) rs146990376(C;C) |
Reference | Rs146990376(G;G) |
Significance | Pathogenic |
Disease | Holoprosencephaly 3 |
Variation | info |
Gene | SHH |
CLNDBN | Holoprosencephaly 3 |
Reversed | 0 |
HGVS | NC_000007.13:g.155599078G>C |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000056117.1, |