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: rs1135401955
rs1135401955 		1.000 6 73003943 missense variant T/G snv
CUI: C4539851
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 		0.800 0
dbSNP: rs1135401956
rs1135401956 		1.000 6 73105359 missense variant C/A snv
CUI: C4539851
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 		0.800 0
dbSNP: rs1135401957
rs1135401957 		1.000 6 73133459 missense variant G/T snv
CUI: C4539851
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 		0.800 0
dbSNP: rs1135401958
rs1135401958 		1.000 6 73111384 missense variant C/G snv
CUI: C4539851
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 		0.800 0
dbSNP: rs7744813
rs7744813 		0.925 0.040 6 72933566 intron variant C/A snv 0.66
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.710 1.000 2 2016 2017
dbSNP: rs947612
rs947612 		6 73028938 intron variant G/A snv 0.57
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2017 2018
dbSNP: rs10498891
rs10498891 		6 73181711 intron variant T/A;C snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs112348907
rs112348907 		1.000 0.040 6 72878230 intron variant A/G snv 0.28
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs13206405
rs13206405 		6 72954091 intron variant C/A snv 0.17
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs17729195
rs17729195 		1.000 0.080 6 72695541 intron variant T/C snv 0.13
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs7744813
rs7744813 		0.925 0.040 6 72933566 intron variant C/A snv 0.66
CUI: C0034951
Disease: Refractive Errors
Refractive Errors 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7744813
rs7744813 		0.925 0.040 6 72933566 intron variant C/A snv 0.66
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		0.700 1.000 1 2013 2013
dbSNP: rs7776021
rs7776021 		6 73032429 intron variant G/A snv 0.43
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1314919218
rs1314919218 		1.000 0.080 6 73077435 missense variant C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs6907229
rs6907229 		1.000 0.080 6 73174426 intron variant C/T snv 0.48
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs9351963
rs9351963 		6 73040138 intron variant A/C snv 0.19
CUI: C0011991
Disease: Diarrhea
Diarrhea 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs9446777
rs9446777 		1.000 0.040 6 72871328 intron variant A/G snv 9.2E-02
CUI: C0031099
Disease: Periodontitis
Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs960292283
rs960292283 		1.000 0.040 6 73194825 missense variant A/G snv 2.8E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2008 2008