rs387906223
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906223(C;T) |
Make rs387906223(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 49171662 |
Gene | KLHDC8B |
is a | snp |
is | mentioned by |
dbSNP | rs387906223 |
dbSNP (classic) | rs387906223 |
ClinGen | rs387906223 |
ebi | rs387906223 |
HLI | rs387906223 |
Exac | rs387906223 |
Gnomad | rs387906223 |
Varsome | rs387906223 |
LitVar | rs387906223 |
Map | rs387906223 |
PheGenI | rs387906223 |
Biobank | rs387906223 |
1000 genomes | rs387906223 |
hgdp | rs387906223 |
ensembl | rs387906223 |
geneview | rs387906223 |
scholar | rs387906223 |
rs387906223 | |
pharmgkb | rs387906223 |
gwascentral | rs387906223 |
openSNP | rs387906223 |
23andMe | rs387906223 |
SNPshot | rs387906223 |
SNPdbe | rs387906223 |
MSV3d | rs387906223 |
GWAS Ctlg | rs387906223 |
Max Magnitude | 0 |
[PMID 27569544] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar | |
---|---|
Risk | rs387906223(T;T) |
Alt | rs387906223(T;T) |
Reference | Rs387906223(C;C) |
Significance | Pathogenic |
Disease | Hodgkin lymphoma |
Variation | info |
Gene | KLHDC8B |
CLNDBN | Hodgkin lymphoma |
Reversed | 0 |
HGVS | NC_000003.11:g.49209095C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000297.2, |