rs749035153
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs749035153(G;T) |
Make rs749035153(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 223004295 |
Gene | DISP1 |
is a | snp |
is | mentioned by |
dbSNP | rs749035153 |
dbSNP (classic) | rs749035153 |
ClinGen | rs749035153 |
ebi | rs749035153 |
HLI | rs749035153 |
Exac | rs749035153 |
Gnomad | rs749035153 |
Varsome | rs749035153 |
LitVar | rs749035153 |
Map | rs749035153 |
PheGenI | rs749035153 |
Biobank | rs749035153 |
1000 genomes | rs749035153 |
hgdp | rs749035153 |
ensembl | rs749035153 |
geneview | rs749035153 |
scholar | rs749035153 |
rs749035153 | |
pharmgkb | rs749035153 |
gwascentral | rs749035153 |
openSNP | rs749035153 |
23andMe | rs749035153 |
SNPshot | rs749035153 |
SNPdbe | rs749035153 |
MSV3d | rs749035153 |
GWAS Ctlg | rs749035153 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749035153(A;A) rs749035153(T;T) |
Alt | rs749035153(A;A) rs749035153(T;T) |
Reference | Rs749035153(G;G) |
Significance | Probable-Pathogenic |
Disease | microform holoprosencephaly |
Variation | info |
Gene | DISP1 |
CLNDBN | microform holoprosencephaly |
Reversed | 0 |
HGVS | NC_000001.10:g.223177637G>A |
CLNSRC | |
CLNACC | RCV000223782.1, |