NFIA, nuclear factor I A, 4774

N. diseases: 95; N. variants: 29
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: rs6691768
rs6691768 		1.000 0.080 1 61326191 intron variant G/A;C snv
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 2 2010 2016
dbSNP: rs1125777
rs1125777 		1.000 0.040 1 61366218 intron variant C/T snv 0.42
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs12568010
rs12568010 		1.000 0.040 1 61366266 intron variant A/G snv 9.8E-02
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs17121983
rs17121983 		1.000 0.040 1 61354400 intron variant C/G;T snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs334699
rs334699 		1 61154824 intron variant A/G snv 0.92
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		0.800 1.000 1 2013 2013
dbSNP: rs41350144
rs41350144 		1.000 0.040 1 61350127 intron variant A/G;T snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs41453448
rs41453448 		1.000 0.040 1 61358717 intron variant G/A snv 0.19
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs4915737
rs4915737 		1.000 0.040 1 61356611 intron variant G/A;C snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs7556462
rs7556462 		1.000 0.040 1 61356147 intron variant T/C snv 0.42
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs1553182933
rs1553182933 		1.000 1 61404103 splice acceptor variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 12 1999 2015
dbSNP: rs1553182933
rs1553182933 		1.000 1 61404103 splice acceptor variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1999 2015
dbSNP: rs1553182964
rs1553182964 		1 61404170 frameshift variant ACTT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 12 1999 2015
dbSNP: rs1553182964
rs1553182964 		1 61404170 frameshift variant ACTT/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 12 1999 2015
dbSNP: rs12561869
rs12561869 		1 61451115 intron variant T/G snv 0.16
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs17377218
rs17377218 		1 61234587 intron variant T/G snv 4.4E-02
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs2207790
rs2207790 		1 61432295 intron variant G/A;T snv
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		0.700 1.000 1 2016 2016
dbSNP: rs2207793
rs2207793 		1 61428981 intron variant C/T snv 0.42
CUI: C1623258
Disease: Electrocardiography
Electrocardiography 		0.700 1.000 1 2018 2018
dbSNP: rs2261980
rs2261980 		1 61445485 intron variant G/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2364467
rs2364467 		1.000 0.040 1 61350682 intron variant C/A;G snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs332828
rs332828 		1.000 0.040 1 61277021 intron variant G/A snv 0.36
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs334699
rs334699 		1 61154824 intron variant A/G snv 0.92
CUI: C0441683
Disease: Hormone measurement
Hormone measurement 		0.700 1.000 1 2013 2013
dbSNP: rs4406666
rs4406666 		1 61364662 intron variant C/A;G;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs479445
rs479445 		1.000 0.040 1 60875960 intron variant T/A snv 0.31
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs55878063
rs55878063 		1 61206237 intron variant G/A snv 0.12
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs55878063
rs55878063 		1 61206237 intron variant G/A snv 0.12
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018