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: rs10896015
rs10896015 		1.000 0.040 11 65556254 intron variant G/A snv 0.26
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		Musculoskeletal Diseases 0.700 1.000 2 2018 2019
dbSNP: rs1554974135
rs1554974135 		0.925 0.080 11 65547459 missense variant G/C snv
CUI: C4540511
Disease: GELEOPHYSIC DYSPLASIA 3
GELEOPHYSIC DYSPLASIA 3 		0.700 1.000 1 2016 2016
dbSNP: rs58621819
rs58621819 		1.000 0.040 11 65547359 intron variant A/G;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1188540819
rs1188540819 		1.000 11 65547915 splice region variant C/T snv 4.0E-06
CUI: C4540511
Disease: GELEOPHYSIC DYSPLASIA 3
GELEOPHYSIC DYSPLASIA 3 		0.700 0
dbSNP: rs121909145
rs121909145 		1.000 0.120 11 65546473 stop gained G/A;C snv 2.9E-05; 4.9E-06
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1286042594
rs1286042594 		1.000 0.120 11 65557828 frameshift variant C/- delins 1.4E-05
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1554971742
rs1554971742 		1.000 11 65539080 stop lost T/A snv
CUI: C4540511
Disease: GELEOPHYSIC DYSPLASIA 3
GELEOPHYSIC DYSPLASIA 3 		0.700 0
dbSNP: rs1554973844
rs1554973844 		1.000 0.120 11 65546547 stop gained C/A snv
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs752375653
rs752375653 		1.000 0.120 11 65546812 frameshift variant C/-;CC delins 2.9E-05
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs796052116
rs796052116 		1.000 0.120 11 65554291 stop gained G/A snv
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs875989822
rs875989822 		1.000 0.120 11 65547462 frameshift variant TTTGAGCCGGTAGC/- delins
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs875989823
rs875989823 		1.000 0.120 11 65551971 splice donor variant C/A snv 4.0E-06
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs875989824
rs875989824 		1.000 0.120 11 65543547 frameshift variant C/- del
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs878853262
rs878853262 		1.000 0.120 11 65547808 frameshift variant -/C delins
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1323910952
rs1323910952 		1.000 0.080 11 65546882 missense variant C/A snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1554974135
rs1554974135 		0.925 0.080 11 65547459 missense variant G/C snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2016 2016