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: rs886037892
rs886037892 		1.000 12 119857620 missense variant C/A snv 4.0E-06
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 4 2016 2016
dbSNP: rs886037893
rs886037893 		1.000 12 119857561 missense variant T/G snv
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 4 2016 2016
dbSNP: rs886037894
rs886037894 		1.000 12 119832835 missense variant T/A;C snv 4.0E-06
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 4 2016 2016
dbSNP: rs11064881
rs11064881 		1.000 0.040 12 119709120 intron variant G/A snv 5.0E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs11064881
rs11064881 		1.000 0.040 12 119709120 intron variant G/A snv 5.0E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs11064881
rs11064881 		1.000 0.040 12 119709120 intron variant G/A snv 5.0E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs17442937
rs17442937 		12 119832834 synonymous variant G/A snv 1.4E-02 1.6E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs17442937
rs17442937 		12 119832834 synonymous variant G/A snv 1.4E-02 1.6E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs203351
rs203351 		0.925 0.040 12 119794842 intron variant A/G snv 6.8E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs203351
rs203351 		0.925 0.040 12 119794842 intron variant A/G snv 6.8E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs278142
rs278142 		0.925 0.040 12 119762308 intron variant G/A snv 0.77
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs278142
rs278142 		0.925 0.040 12 119762308 intron variant G/A snv 0.77
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs4767841
rs4767841 		12 119724394 intron variant G/A snv 0.55
CUI: C0150045
Disease: Urge Incontinence
Urge Incontinence 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs879253817
rs879253817 		0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs879253817
rs879253817 		0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins
CUI: C4014891
Disease: Renal abnormalities
Renal abnormalities 		0.700 0
dbSNP: rs879253817
rs879253817 		0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs879253817
rs879253817 		0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs879255522
rs879255522 		0.925 0.120 12 119822819 splice donor variant C/T snv
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs879255522
rs879255522 		0.925 0.120 12 119822819 splice donor variant C/T snv
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs879255522
rs879255522 		0.925 0.120 12 119822819 splice donor variant C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs879255523
rs879255523 		1.000 0.120 12 119857525 stop gained G/A snv 7.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs879255523
rs879255523 		1.000 0.120 12 119857525 stop gained G/A snv 7.0E-06
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs879255524
rs879255524 		1.000 0.120 12 119850217 missense variant G/C snv
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs879255524
rs879255524 		1.000 0.120 12 119850217 missense variant G/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs886037895
rs886037895 		1.000 12 119832768 splice region variant T/A snv 4.0E-06
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0