rs724159975
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs724159975(C;T) |
Make rs724159975(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 22 |
Position | 50224196 |
Gene | TUBGCP6 |
is a | snp |
is | mentioned by |
dbSNP | rs724159975 |
dbSNP (classic) | rs724159975 |
ClinGen | rs724159975 |
ebi | rs724159975 |
HLI | rs724159975 |
Exac | rs724159975 |
Gnomad | rs724159975 |
Varsome | rs724159975 |
LitVar | rs724159975 |
Map | rs724159975 |
PheGenI | rs724159975 |
Biobank | rs724159975 |
1000 genomes | rs724159975 |
hgdp | rs724159975 |
ensembl | rs724159975 |
geneview | rs724159975 |
scholar | rs724159975 |
rs724159975 | |
pharmgkb | rs724159975 |
gwascentral | rs724159975 |
openSNP | rs724159975 |
23andMe | rs724159975 |
SNPshot | rs724159975 |
SNPdbe | rs724159975 |
MSV3d | rs724159975 |
GWAS Ctlg | rs724159975 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs724159975(T;T) |
Alt | rs724159975(T;T) |
Reference | Rs724159975(C;C) |
Significance | Pathogenic |
Disease | Microcephaly with chorioretinopathy |
Variation | info |
Gene | TUBGCP6 |
CLNDBN | Microcephaly with chorioretinopathy, autosomal recessive |
Reversed | 1 |
HGVS | NC_000022.10:g.50662625G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149798.6, |