DSCAM, DS cell adhesion molecule, 1826

N. diseases: 45; N. variants: 12
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: rs2837828
rs2837828 		21 40803034 intron variant A/G snv 0.44
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.800 1.000 1 2011 2011
dbSNP: rs727333
rs727333 		1.000 0.080 21 40331020 intron variant C/A snv 6.6E-02
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.800 1.000 1 2013 2013
dbSNP: rs727333
rs727333 		1.000 0.080 21 40331020 intron variant C/A snv 6.6E-02
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.800 1.000 1 2013 2013
dbSNP: rs1369501286
rs1369501286 		1.000 21 40044201 stop gained G/A snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2014 2017
dbSNP: rs2249498
rs2249498 		1.000 0.080 21 40059947 intron variant T/A;C snv
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2249498
rs2249498 		1.000 0.080 21 40059947 intron variant T/A;C snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs2837398
rs2837398 		21 40055241 intron variant A/C;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs2837554
rs2837554 		1.000 0.080 21 40295451 intron variant A/G snv 0.78
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3804024
rs3804024 		21 40621781 intron variant T/C snv 9.0E-02
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs3804024
rs3804024 		21 40621781 intron variant T/C snv 9.0E-02
CUI: C2734068
Disease: Arm span
Arm span 		0.700 1.000 1 2012 2012
dbSNP: rs455489
rs455489 		21 40567642 intron variant A/C snv 0.15
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2019 2019
dbSNP: rs727333
rs727333 		1.000 0.080 21 40331020 intron variant C/A snv 6.6E-02
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs7282525
rs7282525 		21 40088485 intron variant C/G;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs9980603
rs9980603 		0.925 0.080 21 40514656 intron variant T/C snv 0.40
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.700 1.000 1 2013 2013
dbSNP: rs9980603
rs9980603 		0.925 0.080 21 40514656 intron variant T/C snv 0.40
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs1419539530
rs1419539530 		1.000 0.080 21 40189232 missense variant G/A snv 9.5E-06 7.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs2837770
rs2837770 		1.000 0.080 21 40662426 intron variant G/A snv 0.34
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2018 2018