rs104894044
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894044(C;T) |
Make rs104894044(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 155811825 |
Gene | SHH |
is a | snp |
is | mentioned by |
dbSNP | rs104894044 |
dbSNP (old) | rs104894044 |
ClinGen | rs104894044 |
ebi | rs104894044 |
HLI | rs104894044 |
Exac | rs104894044 |
Gnomad | rs104894044 |
Varsome | rs104894044 |
Map | rs104894044 |
PheGenI | rs104894044 |
Biobank | rs104894044 |
1000 genomes | rs104894044 |
hgdp | rs104894044 |
ensembl | rs104894044 |
gopubmed | rs104894044 |
geneview | rs104894044 |
scholar | rs104894044 |
rs104894044 | |
pharmgkb | rs104894044 |
gwascentral | rs104894044 |
openSNP | rs104894044 |
23andMe | rs104894044 |
23andMe all | rs104894044 |
SNPshot | rs104894044 |
SNPdbe | rs104894044 |
MSV3d | rs104894044 |
GWAS Ctlg | rs104894044 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894044(T;T) |
Alt | rs104894044(T;T) |
Reference | Rs104894044(C;C) |
Significance | Pathogenic |
Disease | Holoprosencephaly 3 |
Variation | info |
Gene | SHH |
CLNDBN | Holoprosencephaly 3 |
Reversed | 1 |
HGVS | NC_000007.13:g.155604519G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009428.2, |