rs41511151
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs41511151(A;A) |
Make rs41511151(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 7 |
Position | 74068657 |
Gene | ELN |
is a | snp |
is | mentioned by |
dbSNP | rs41511151 |
dbSNP (classic) | rs41511151 |
ClinGen | rs41511151 |
ebi | rs41511151 |
HLI | rs41511151 |
Exac | rs41511151 |
Gnomad | rs41511151 |
Varsome | rs41511151 |
LitVar | rs41511151 |
Map | rs41511151 |
PheGenI | rs41511151 |
Biobank | rs41511151 |
1000 genomes | rs41511151 |
hgdp | rs41511151 |
ensembl | rs41511151 |
geneview | rs41511151 |
scholar | rs41511151 |
rs41511151 | |
pharmgkb | rs41511151 |
gwascentral | rs41511151 |
openSNP | rs41511151 |
23andMe | rs41511151 |
SNPshot | rs41511151 |
SNPdbe | rs41511151 |
MSV3d | rs41511151 |
GWAS Ctlg | rs41511151 |
Max Magnitude | 0 |
[PMID 28146470] Rare and low-frequency coding variants alter human adult height.
ClinVar | |
---|---|
Risk | rs41511151(A;A) |
Alt | rs41511151(A;A) |
Reference | Rs41511151(G;G) |
Significance | Probable-non-pathogenic |
Disease | not specified Cutis laxa Supravalvular aortic stenosis |
Variation | info |
Gene | ELN |
CLNDBN | not specified Cutis laxa, autosomal dominant Supravalvular aortic stenosis |
Reversed | 0 |
HGVS | NC_000007.13:g.73482987G>A |
CLNSRC | |
CLNACC | RCV000036527.3, RCV000323541.1, RCV000361922.1, |