rs368148362
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs368148362(A;A) |
Make rs368148362(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 34941184 |
Gene | DNAJC21 |
is a | snp |
is | mentioned by |
dbSNP | rs368148362 |
dbSNP (classic) | rs368148362 |
ClinGen | rs368148362 |
ebi | rs368148362 |
HLI | rs368148362 |
Exac | rs368148362 |
Gnomad | rs368148362 |
Varsome | rs368148362 |
LitVar | rs368148362 |
Map | rs368148362 |
PheGenI | rs368148362 |
Biobank | rs368148362 |
1000 genomes | rs368148362 |
hgdp | rs368148362 |
ensembl | rs368148362 |
geneview | rs368148362 |
scholar | rs368148362 |
rs368148362 | |
pharmgkb | rs368148362 |
gwascentral | rs368148362 |
openSNP | rs368148362 |
23andMe | rs368148362 |
SNPshot | rs368148362 |
SNPdbe | rs368148362 |
MSV3d | rs368148362 |
GWAS Ctlg | rs368148362 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs368148362(A;A) rs368148362(T;T) |
Alt | rs368148362(A;A) rs368148362(T;T) |
Reference | Rs368148362(G;G) |
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.34941289G>A; NC_000005.9:g.34941289G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000235793.1, RCV000239558.1, |