rs14647
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs14647(A;A) |
Make rs14647(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 1982108 |
Gene | NSD2, WHSC1 |
is a | snp |
is | mentioned by |
dbSNP | rs14647 |
dbSNP (classic) | rs14647 |
ClinGen | rs14647 |
ebi | rs14647 |
HLI | rs14647 |
Exac | rs14647 |
Gnomad | rs14647 |
Varsome | rs14647 |
LitVar | rs14647 |
Map | rs14647 |
PheGenI | rs14647 |
Biobank | rs14647 |
1000 genomes | rs14647 |
hgdp | rs14647 |
ensembl | rs14647 |
geneview | rs14647 |
scholar | rs14647 |
rs14647 | |
pharmgkb | rs14647 |
gwascentral | rs14647 |
openSNP | rs14647 |
23andMe | rs14647 |
SNPshot | rs14647 |
SNPdbe | rs14647 |
MSV3d | rs14647 |
GWAS Ctlg | rs14647 |
Max Magnitude | 0 |
[PMID 20935158] Evaluation of polymorphisms in predicted target sites for micro-RNAs differentially expressed in endometriosis
ClinVar | |
---|---|
Risk | rs14647(A;A) |
Alt | rs14647(A;A) |
Reference | Rs14647(C;C) |
Significance | Probable-non-pathogenic |
Disease | 4p partial monosomy syndrome |
Variation | info |
Gene | WHSC1 |
CLNDBN | 4p partial monosomy syndrome |
Reversed | 1 |
HGVS | NC_000004.11:g.1983835G>T |
CLNSRC | |
CLNACC | RCV000284727.1, |