EFHC2, EF-hand domain containing 2, 80258

N. diseases: 8; N. variants: 2
Disease: Turner Syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs7055196
rs7055196 		1.000 0.200 X 44245292 intron variant A/G snv 0.23
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.020 1.000 2 2008 2015