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: rs121434418
rs121434418 		1.000 0.080 4 95154620 missense variant C/T snv
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 2 2003 2006
dbSNP: rs121434419
rs121434419 		0.925 0.080 4 95154621 missense variant G/A snv
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 2 2003 2006
dbSNP: rs121434417
rs121434417 		1.000 0.080 4 95129875 missense variant T/A snv
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2003 2006
dbSNP: rs869025614
rs869025614 		1.000 4 95131411 missense variant A/C snv
CUI: C4225183
Disease: BRACHYDACTYLY, TYPE A1, D
BRACHYDACTYLY, TYPE A1, D 		0.800 1.000 1 2015 2015
dbSNP: rs745854387
rs745854387 		1.000 4 95104515 missense variant C/A;T snv 4.0E-06
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.800 0
dbSNP: rs863225041
rs863225041 		0.925 0.080 4 95114733 missense variant T/C snv
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.800 0
dbSNP: rs12645001
rs12645001 		4 95097186 intron variant G/A snv 0.31
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1347345
rs1347345 		4 95017235 intron variant G/A snv 0.68
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs1434538
rs1434538 		1.000 0.040 4 95145521 intron variant C/T snv 0.48
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1544387
rs1544387 		4 94852434 intron variant G/T snv 0.61
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs17616243
rs17616243 		1.000 0.040 4 94871365 intron variant C/T snv 0.13
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs3821964
rs3821964 		4 95119553 intron variant C/T snv 0.63
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs1553941890
rs1553941890 		0.851 0.080 4 95129916 missense variant C/A snv
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.700 0
dbSNP: rs1553941890
rs1553941890 		0.851 0.080 4 95129916 missense variant C/A snv
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553941890
rs1553941890 		0.851 0.080 4 95129916 missense variant C/A snv
CUI: C4225183
Disease: BRACHYDACTYLY, TYPE A1, D
BRACHYDACTYLY, TYPE A1, D 		0.700 0
dbSNP: rs1553941890
rs1553941890 		0.851 0.080 4 95129916 missense variant C/A snv
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs200035802
rs200035802 		1.000 0.080 4 95104516 missense variant G/A snv 1.7E-04 1.5E-04
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs863223287
rs863223287 		1.000 4 95123819 frameshift variant GGACCTAT/- delins
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.700 0
dbSNP: rs863225042
rs863225042 		1.000 4 95129933 stop gained G/A snv
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.700 0
dbSNP: rs869025613
rs869025613 		1.000 4 95124982 splice acceptor variant G/A snv
CUI: C4225183
Disease: BRACHYDACTYLY, TYPE A1, D
BRACHYDACTYLY, TYPE A1, D 		0.700 0
dbSNP: rs121434419
rs121434419 		0.925 0.080 4 95154621 missense variant G/A snv
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2006 2006
dbSNP: rs140047318
rs140047318 		0.882 0.080 4 95152757 missense variant G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2006 2006
dbSNP: rs140047318
rs140047318 		0.882 0.080 4 95152757 missense variant G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs140047318
rs140047318 		0.882 0.080 4 95152757 missense variant G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1412113319
rs1412113319 		1.000 0.080 4 95148847 missense variant C/G snv 4.0E-06
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		Respiratory Tract Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012