rs1489738488
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 3 | Carrier of a MMAF male infertility mutation |
(G;G) | 0 | common/normal |
Make rs1489738488(C;C) |
is a | snp |
is | mentioned by |
dbSNP | rs1489738488 |
dbSNP (classic) | rs1489738488 |
ClinGen | rs1489738488 |
ebi | rs1489738488 |
HLI | rs1489738488 |
Exac | rs1489738488 |
Gnomad | rs1489738488 |
Varsome | rs1489738488 |
LitVar | rs1489738488 |
Map | rs1489738488 |
PheGenI | rs1489738488 |
Biobank | rs1489738488 |
1000 genomes | rs1489738488 |
hgdp | rs1489738488 |
ensembl | rs1489738488 |
geneview | rs1489738488 |
scholar | rs1489738488 |
rs1489738488 | |
pharmgkb | rs1489738488 |
gwascentral | rs1489738488 |
openSNP | rs1489738488 |
23andMe | rs1489738488 |
SNPshot | rs1489738488 |
SNPdbe | rs1489738488 |
MSV3d | rs1489738488 |
GWAS Ctlg | rs1489738488 |
Max Magnitude | 3 |
aka c.1107C>G (p.Tyr369*); MMAF recessive mutation. [note: cDNA is on reverse strand]
[PMID 31735294]: Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice.