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: rs3816183
rs3816183 		0.925 0.120 2 42788579 missense variant T/C snv 0.80 0.80
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 2 2014 2019
dbSNP: rs1065643
rs1065643 		2 42794053 upstream gene variant T/C snv 0.14
CUI: C3548805
Disease: response to aromatase inhibitor
response to aromatase inhibitor 		0.700 1.000 1 2019 2019
dbSNP: rs1135401743
rs1135401743 		0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401743
rs1135401743 		0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06
CUI: C1970816
Disease: Hypoplastic sacrum
Hypoplastic sacrum 		0.700 1.000 1 2017 2017
dbSNP: rs1135401743
rs1135401743 		0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06
CUI: C4540004
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		0.700 1.000 1 2017 2017
dbSNP: rs1135401743
rs1135401743 		0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401743
rs1135401743 		0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401743
rs1135401743 		0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401743
rs1135401743 		0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		0.700 1.000 1 2017 2017
dbSNP: rs1135401743
rs1135401743 		0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401743
rs1135401743 		0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		0.700 1.000 1 2017 2017
dbSNP: rs1135401743
rs1135401743 		0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae 		0.700 1.000 1 2017 2017
dbSNP: rs1135401743
rs1135401743 		0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756 		0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756 		0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756 		0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756 		0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C1835570
Disease: Hypoplastic cervical vertebrae
Hypoplastic cervical vertebrae 		0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756 		0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756 		0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756 		0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756 		0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756 		0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C4540004
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756 		0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756 		0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C1301937
Disease: Talipes
Talipes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756 		0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C4025857
Disease: Incomplete partition of the cochlea type II
Incomplete partition of the cochlea type II 		0.700 1.000 1 2017 2017