RS139512218 SPRY4

Health Risk Chr 5:142314455 snv missense variant

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Associated Conditions

Hypogonadotropic hypogonadism 17 with or without anosmia

Amenorrhea

Hypogonadotropic hypogonadism 17 with or without anosmia

Amenorrhea

ClinVar Assertions (1)

NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr)

· 6 submitters

Population Frequencies

gnomAD ALL

99.4%

1kG AFR

100%

1kG ALL

99.8%

1kG AMR

0.4%

1kG EAS

100%

1kG EUR

0.8%

1kG SAS

99.9%

Other Variants in SPRY4