rs748623920
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs748623920(C;C) |
Make rs748623920(C;T) |
Make rs748623920(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 9 |
Position | 35657991 |
Gene | CCDC107, RMRP |
is a | snp |
is | mentioned by |
dbSNP | rs748623920 |
dbSNP (classic) | rs748623920 |
ClinGen | rs748623920 |
ebi | rs748623920 |
HLI | rs748623920 |
Exac | rs748623920 |
Gnomad | rs748623920 |
Varsome | rs748623920 |
LitVar | rs748623920 |
Map | rs748623920 |
PheGenI | rs748623920 |
Biobank | rs748623920 |
1000 genomes | rs748623920 |
hgdp | rs748623920 |
ensembl | rs748623920 |
geneview | rs748623920 |
scholar | rs748623920 |
rs748623920 | |
pharmgkb | rs748623920 |
gwascentral | rs748623920 |
openSNP | rs748623920 |
23andMe | rs748623920 |
SNPshot | rs748623920 |
SNPdbe | rs748623920 |
MSV3d | rs748623920 |
GWAS Ctlg | rs748623920 |
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.