PARD3, par-3 family cell polarity regulator, 56288

N. diseases: 68; N. variants: 15
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: rs1114167354
rs1114167354 		1.000 10 34341696 missense variant T/C snv
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 1.000 1 2017 2017
dbSNP: rs781461462
rs781461462 		1.000 10 34331221 missense variant G/A;C;T snv 1.6E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 1.000 1 2017 2017
dbSNP: rs1765174
rs1765174 		10 34279104 intron variant C/A;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs199923448
rs199923448 		1.000 10 34382893 missense variant C/A;T snv 8.0E-06; 5.6E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2017 2017
dbSNP: rs3004929
rs3004929 		10 34125937 intron variant G/A snv 0.46
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs557643577
rs557643577 		1.000 10 34450451 splice region variant A/G snv 5.8E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2017 2017
dbSNP: rs610493
rs610493 		10 34289805 intron variant T/C snv 0.15
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs641162
rs641162 		10 34277992 intron variant G/A;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs647758
rs647758 		10 34201926 intron variant A/G snv 0.66
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs757259023
rs757259023 		1.000 10 34111495 missense variant C/T snv 1.3E-04 2.8E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2017 2017
dbSNP: rs762921297
rs762921297 		1.000 10 34336232 missense variant T/A snv 2.6E-04 7.7E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2017 2017
dbSNP: rs10763976
rs10763976 		0.925 0.120 10 34275364 intron variant G/A snv 0.42
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10763976
rs10763976 		0.925 0.120 10 34275364 intron variant G/A snv 0.42
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10827337
rs10827337 		10 34202922 intron variant G/A snv 0.20
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12218196
rs12218196 		10 34196864 intron variant T/C snv 2.0E-02
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2496720
rs2496720 		10 34606401 intron variant T/C snv 0.10
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012