rs34928744
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs34928744(C;C) |
Make rs34928744(C;T) |
Make rs34928744(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 171652737 |
Gene | MYOC |
is a | snp |
is | mentioned by |
dbSNP | rs34928744 |
dbSNP (classic) | rs34928744 |
ClinGen | rs34928744 |
ebi | rs34928744 |
HLI | rs34928744 |
Exac | rs34928744 |
Gnomad | rs34928744 |
Varsome | rs34928744 |
LitVar | rs34928744 |
Map | rs34928744 |
PheGenI | rs34928744 |
Biobank | rs34928744 |
1000 genomes | rs34928744 |
hgdp | rs34928744 |
ensembl | rs34928744 |
geneview | rs34928744 |
scholar | rs34928744 |
rs34928744 | |
pharmgkb | rs34928744 |
gwascentral | rs34928744 |
openSNP | rs34928744 |
23andMe | rs34928744 |
SNPshot | rs34928744 |
SNPdbe | rs34928744 |
MSV3d | rs34928744 |
GWAS Ctlg | rs34928744 |
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.