rs150576702
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs150576702(C;T) |
Make rs150576702(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 34937404 |
Gene | DNAJC21 |
is a | snp |
is | mentioned by |
dbSNP | rs150576702 |
dbSNP (classic) | rs150576702 |
ClinGen | rs150576702 |
ebi | rs150576702 |
HLI | rs150576702 |
Exac | rs150576702 |
Gnomad | rs150576702 |
Varsome | rs150576702 |
LitVar | rs150576702 |
Map | rs150576702 |
PheGenI | rs150576702 |
Biobank | rs150576702 |
1000 genomes | rs150576702 |
hgdp | rs150576702 |
ensembl | rs150576702 |
geneview | rs150576702 |
scholar | rs150576702 |
rs150576702 | |
pharmgkb | rs150576702 |
gwascentral | rs150576702 |
openSNP | rs150576702 |
23andMe | rs150576702 |
SNPshot | rs150576702 |
SNPdbe | rs150576702 |
MSV3d | rs150576702 |
GWAS Ctlg | rs150576702 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs150576702(T;T) |
Alt | rs150576702(T;T) |
Reference | Rs150576702(C;C) |
Significance | Pathogenic |
Disease | Inherited bone marrow failure syndrome Bone marrow failure syndrome 3 |
Variation | info |
Gene | DNAJC21 |
CLNDBN | Inherited bone marrow failure syndrome Bone marrow failure syndrome 3 |
Reversed | 0 |
HGVS | NC_000005.9:g.34937509C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000236259.1, RCV000239500.1, |