Disorder "Hypospadias"
Found 1 record
Disorder information
Disorder name:
Hypospadias
Disoder ID:
OMIM entry:
Synonyms:
spinal dysraphism,familial hypospadias
Definition:
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| HSD17B3 | HSD17B3:c.865G>A(p.Gly289Ser) | Expressivity | Risk factor | OR=3.06; 95% CI: 1.38-6.76 | These results suggest that the HSD17B3 G289S polymorphism may be a potential risk modifier for hypospadias.more | more |
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