KIF1B, kinesin family member 1B, 23095

N. diseases: 213; N. variants: 16
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: rs17401966
rs17401966 		0.790 0.280 1 10325413 intron variant A/G snv 0.24
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.900 0.833 12 2010 2019
dbSNP: rs10492972
rs10492972 		1.000 0.080 1 10293054 intron variant T/C snv 0.32
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.830 1.000 4 2008 2011
dbSNP: rs17401966
rs17401966 		0.790 0.280 1 10325413 intron variant A/G snv 0.24
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.730 0.750 4 2011 2019
dbSNP: rs17401966
rs17401966 		0.790 0.280 1 10325413 intron variant A/G snv 0.24
CUI: C1333977
Disease: Hepatitis B Virus-Related Hepatocellular Carcinoma
Hepatitis B Virus-Related Hepatocellular Carcinoma 		0.020 1.000 2 2013 2014
dbSNP: rs1002076
rs1002076 		0.925 0.120 1 10378834 3 prime UTR variant G/A snv 0.33
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1002076
rs1002076 		0.925 0.120 1 10378834 3 prime UTR variant G/A snv 0.33
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs11121529
rs11121529 		1 10211630 5 prime UTR variant C/G snv 0.20
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs112682076
rs112682076 		1 10297748 intron variant G/C snv 5.8E-03
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs112682076
rs112682076 		1 10297748 intron variant G/C snv 5.8E-03
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs121908160
rs121908160 		0.882 0.080 1 10258602 missense variant A/T snv
CUI: C1861678
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2001 2001
dbSNP: rs121908160
rs121908160 		0.882 0.080 1 10258602 missense variant A/T snv
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs121908160
rs121908160 		0.882 0.080 1 10258602 missense variant A/T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2004 2004
dbSNP: rs121908163
rs121908163 		1 10345943 missense variant C/T snv 2.0E-04 5.6E-05
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2008 2008
dbSNP: rs1244845760
rs1244845760 		1.000 0.080 1 10295763 missense variant G/A snv 4.0E-06
CUI: C0393818
Disease: Congenital hypomyelinating neuropathy
Congenital hypomyelinating neuropathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1261963959
rs1261963959 		1 10297069 missense variant G/A snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs17396340
rs17396340 		1 10226118 intron variant G/A;C snv
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs17396340
rs17396340 		1 10226118 intron variant G/A;C snv
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.800 1.000 1 2011 2011
dbSNP: rs17396340
rs17396340 		1 10226118 intron variant G/A;C snv
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs17401966
rs17401966 		0.790 0.280 1 10325413 intron variant A/G snv 0.24
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2013 2013
dbSNP: rs17401966
rs17401966 		0.790 0.280 1 10325413 intron variant A/G snv 0.24
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17401966
rs17401966 		0.790 0.280 1 10325413 intron variant A/G snv 0.24
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs17401966
rs17401966 		0.790 0.280 1 10325413 intron variant A/G snv 0.24
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3748578
rs3748578 		1.000 0.080 1 10360860 intron variant G/A snv 0.29
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs41274458
rs41274458 		0.851 0.080 1 10303606 missense variant G/T snv 1.8E-02 1.9E-02
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs41274458
rs41274458 		0.851 0.080 1 10303606 missense variant G/T snv 1.8E-02 1.9E-02
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive 		Neoplasms 0.010 1.000 1 2003 2003