Disorder "Early Human Pregnancy"
Found 1 record
Disorder information
Disorder name:
Early Human Pregnancy
Disoder ID:
No data
Definition:
Most pregnant women experience a number of symptoms, which can signify pregnancy. A number of early medical signs are associated with pregnancy. These signs include: the presence of human chorionic gonadotropin (hCG) in the blood and urine; missed menstrual period.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| PROK1 | PROK1:c.199G>A(p.Val67Ile) | Expressivity | Altered severity | Gene activity study | The common variant of V67I, modifying the disease severity of PROK1-related pathophysiologies.more | more |
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