rs117184692
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs117184692(C;C) |
Make rs117184692(C;G) |
Make rs117184692(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 8 |
Position | 41797742 |
Gene | ANK1, LOC105379392 |
is a | snp |
is | mentioned by |
dbSNP | rs117184692 |
dbSNP (classic) | rs117184692 |
ClinGen | rs117184692 |
ebi | rs117184692 |
HLI | rs117184692 |
Exac | rs117184692 |
Gnomad | rs117184692 |
Varsome | rs117184692 |
LitVar | rs117184692 |
Map | rs117184692 |
PheGenI | rs117184692 |
Biobank | rs117184692 |
1000 genomes | rs117184692 |
hgdp | rs117184692 |
ensembl | rs117184692 |
geneview | rs117184692 |
scholar | rs117184692 |
rs117184692 | |
pharmgkb | rs117184692 |
gwascentral | rs117184692 |
openSNP | rs117184692 |
23andMe | rs117184692 |
SNPshot | rs117184692 |
SNPdbe | rs117184692 |
MSV3d | rs117184692 |
GWAS Ctlg | rs117184692 |
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.