HHAT, hedgehog acyltransferase, 55733

N. diseases: 75; N. variants: 5
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: rs7527939
rs7527939 		1.000 0.040 1 210362681 intron variant C/T snv 0.30
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.810 1.000 1 2013 2013
dbSNP: rs1340611668
rs1340611668 		1 210348976 start lost A/G;T snv 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2004 2014
dbSNP: rs12758027
rs12758027 		1.000 0.040 1 210621464 intron variant T/C snv 0.52
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4537555
rs4537555 		1 210504207 intron variant A/G snv 8.2E-02
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs4537555
rs4537555 		1 210504207 intron variant A/G snv 8.2E-02
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1173716957
rs1173716957 		1.000 0.120 1 210464508 missense variant G/T snv 1.4E-05
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1173716957
rs1173716957 		1.000 0.120 1 210464508 missense variant G/T snv 1.4E-05
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1173716957
rs1173716957 		1.000 0.120 1 210464508 missense variant G/T snv 1.4E-05
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014