rs551450545
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs551450545(C;C) |
Make rs551450545(C;T) |
Make rs551450545(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 9 |
Position | 35657776 |
Gene | CCDC107, RMRP |
is a | snp |
is | mentioned by |
dbSNP | rs551450545 |
dbSNP (classic) | rs551450545 |
ClinGen | rs551450545 |
ebi | rs551450545 |
HLI | rs551450545 |
Exac | rs551450545 |
Gnomad | rs551450545 |
Varsome | rs551450545 |
LitVar | rs551450545 |
Map | rs551450545 |
PheGenI | rs551450545 |
Biobank | rs551450545 |
1000 genomes | rs551450545 |
hgdp | rs551450545 |
ensembl | rs551450545 |
geneview | rs551450545 |
scholar | rs551450545 |
rs551450545 | |
pharmgkb | rs551450545 |
gwascentral | rs551450545 |
openSNP | rs551450545 |
23andMe | rs551450545 |
SNPshot | rs551450545 |
SNPdbe | rs551450545 |
MSV3d | rs551450545 |
GWAS Ctlg | rs551450545 |
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.