rs142036701
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common/normal |
(G;T) | 2 | Height-related; carriers reported to be 2cm shorter than non-carriers |
Make rs142036701(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 219060239 |
Gene | IHH, MIR3131 |
is a | snp |
is | mentioned by |
dbSNP | rs142036701 |
dbSNP (classic) | rs142036701 |
ClinGen | rs142036701 |
ebi | rs142036701 |
HLI | rs142036701 |
Exac | rs142036701 |
Gnomad | rs142036701 |
Varsome | rs142036701 |
LitVar | rs142036701 |
Map | rs142036701 |
PheGenI | rs142036701 |
Biobank | rs142036701 |
1000 genomes | rs142036701 |
hgdp | rs142036701 |
ensembl | rs142036701 |
geneview | rs142036701 |
scholar | rs142036701 |
rs142036701 | |
pharmgkb | rs142036701 |
gwascentral | rs142036701 |
openSNP | rs142036701 |
23andMe | rs142036701 |
SNPshot | rs142036701 |
SNPdbe | rs142036701 |
MSV3d | rs142036701 |
GWAS Ctlg | rs142036701 |
Max Magnitude | 2 |
[PMID 28146470] Rare and low-frequency coding variants alter human adult height.
- Height related SNP; carriers of the (rare) minor allele for this SNP are approximately 2 cm shorter than non-carriers.
ClinVar | |
---|---|
Risk | rs142036701(T;T) |
Alt | rs142036701(T;T) |
Reference | Rs142036701(G;G) |
Significance | Probable-non-pathogenic |
Disease | Brachydactyly |
Variation | info |
Gene | IHH MIR3131 |
CLNDBN | Brachydactyly |
Reversed | 0 |
HGVS | NC_000002.11:g.219924961G>T |
CLNSRC | |
CLNACC | RCV000348092.1, |