FUZ, fuzzy planar cell polarity protein, 80199

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: rs794729668
rs794729668 		0.925 0.160 19 49818457 missense variant A/G snv
CUI: C4225323
Disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME 		0.800 0
dbSNP: rs137955120
rs137955120 		1.000 19 49807197 missense variant C/T snv 1.5E-04 9.1E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs139365610
rs139365610 		1.000 19 49807348 missense variant C/A;T snv 2.4E-05; 8.1E-04
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs387907204
rs387907204 		1.000 19 49812733 missense variant G/A snv
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs548706733
rs548706733 		1.000 0.080 19 49812987 splice donor variant AGGCCCCACCTGCTGACGGGCGG/- del 6.7E-06 9.8E-05
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs794729668
rs794729668 		0.925 0.160 19 49818457 missense variant A/G snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015