rs796052139
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TT;TT) | 0 | common in clinvar |
Make rs796052139(-;-) |
Make rs796052139(-;TT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 71344216 |
Gene | LOC105378353, SLC29A3 |
is a | snp |
is | mentioned by |
dbSNP | rs796052139 |
dbSNP (classic) | rs796052139 |
ClinGen | rs796052139 |
ebi | rs796052139 |
HLI | rs796052139 |
Exac | rs796052139 |
Gnomad | rs796052139 |
Varsome | rs796052139 |
LitVar | rs796052139 |
Map | rs796052139 |
PheGenI | rs796052139 |
Biobank | rs796052139 |
1000 genomes | rs796052139 |
hgdp | rs796052139 |
ensembl | rs796052139 |
geneview | rs796052139 |
scholar | rs796052139 |
rs796052139 | |
pharmgkb | rs796052139 |
gwascentral | rs796052139 |
openSNP | rs796052139 |
23andMe | rs796052139 |
SNPshot | rs796052139 |
SNPdbe | rs796052139 |
MSV3d | rs796052139 |
GWAS Ctlg | rs796052139 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052139(-;-) |
Alt | rs796052139(-;-) |
Reference | Rs796052139(TT;TT) |
Significance | Pathogenic |
Disease | Histiocytosis-lymphadenopathy plus syndrome |
Variation | info |
Gene | SLC29A3 |
CLNDBN | Histiocytosis-lymphadenopathy plus syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.73103973_73103974delTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023937.4, |