rs773102942
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs773102942(-;T) |
Make rs773102942(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 21 |
Position | 36936789 |
Gene | HLCS |
is a | snp |
is | mentioned by |
dbSNP | rs773102942 |
dbSNP (classic) | rs773102942 |
ClinGen | rs773102942 |
ebi | rs773102942 |
HLI | rs773102942 |
Exac | rs773102942 |
Gnomad | rs773102942 |
Varsome | rs773102942 |
LitVar | rs773102942 |
Map | rs773102942 |
PheGenI | rs773102942 |
Biobank | rs773102942 |
1000 genomes | rs773102942 |
hgdp | rs773102942 |
ensembl | rs773102942 |
geneview | rs773102942 |
scholar | rs773102942 |
rs773102942 | |
pharmgkb | rs773102942 |
gwascentral | rs773102942 |
openSNP | rs773102942 |
23andMe | rs773102942 |
SNPshot | rs773102942 |
SNPdbe | rs773102942 |
MSV3d | rs773102942 |
GWAS Ctlg | rs773102942 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773102942(T;T) |
Alt | rs773102942(T;T) |
Reference | Rs773102942(-;-) |
Significance | Pathogenic |
Disease | Holocarboxylase synthetase deficiency |
Variation | info |
Gene | HLCS |
CLNDBN | Holocarboxylase synthetase deficiency |
Reversed | 0 |
HGVS | NC_000021.8:g.38309090dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001990.4, |