rs750423023
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs750423023(A;A) |
Make rs750423023(A;G) |
Make rs750423023(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 72887420 |
Gene | SPR |
is a | snp |
is | mentioned by |
dbSNP | rs750423023 |
dbSNP (classic) | rs750423023 |
ClinGen | rs750423023 |
ebi | rs750423023 |
HLI | rs750423023 |
Exac | rs750423023 |
Gnomad | rs750423023 |
Varsome | rs750423023 |
LitVar | rs750423023 |
Map | rs750423023 |
PheGenI | rs750423023 |
Biobank | rs750423023 |
1000 genomes | rs750423023 |
hgdp | rs750423023 |
ensembl | rs750423023 |
geneview | rs750423023 |
scholar | rs750423023 |
rs750423023 | |
pharmgkb | rs750423023 |
gwascentral | rs750423023 |
openSNP | rs750423023 |
23andMe | rs750423023 |
SNPshot | rs750423023 |
SNPdbe | rs750423023 |
MSV3d | rs750423023 |
GWAS Ctlg | rs750423023 |
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.