EPHB4, EPH receptor B4, 2050

N. diseases: 157; N. variants: 27
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: rs776410552
rs776410552 		1.000 7 100806499 missense variant T/C snv 4.0E-06
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.800 1.000 1 2017 2017
dbSNP: rs1057519263
rs1057519263 		1.000 7 100807483 missense variant C/T snv
CUI: C4310629
Disease: LYMPHATIC MALFORMATION 7
LYMPHATIC MALFORMATION 7 		0.800 0
dbSNP: rs1057519264
rs1057519264 		1.000 7 100806559 missense variant A/C snv
CUI: C4310629
Disease: LYMPHATIC MALFORMATION 7
LYMPHATIC MALFORMATION 7 		0.800 0
dbSNP: rs1330628156
rs1330628156 		1.000 7 100806485 missense variant C/T snv 4.0E-06
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 1.000 4 2017 2019
dbSNP: rs1417508111
rs1417508111 		1.000 7 100806539 missense variant G/A snv 7.0E-06
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 1.000 4 2017 2019
dbSNP: rs61735971
rs61735971 		1.000 7 100823834 missense variant C/G;T snv 4.0E-06; 8.1E-06
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 1.000 4 2017 2019
dbSNP: rs745584371
rs745584371 		1.000 7 100812899 missense variant G/A snv 4.0E-06
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 1.000 4 2017 2019
dbSNP: rs764827256
rs764827256 		1.000 7 100805667 missense variant G/A;C snv 1.1E-05 7.0E-06
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 1.000 4 2017 2019
dbSNP: rs769965440
rs769965440 		1.000 7 100805589 missense variant G/A snv
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 1.000 4 2017 2019
dbSNP: rs776305185
rs776305185 		1.000 7 100817234 missense variant C/T snv 1.3E-05
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 1.000 4 2017 2019
dbSNP: rs1057515420
rs1057515420 		1.000 0.080 7 100819874 missense variant G/A snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2009 2016
dbSNP: rs116979562
rs116979562 		7 100816525 intron variant G/A snv 1.6E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs116979562
rs116979562 		7 100816525 intron variant G/A snv 1.6E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs1562969219
rs1562969219 		1.000 7 100812875 missense variant C/T snv
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 1.000 1 2017 2017
dbSNP: rs2437101
rs2437101 		7 100803827 intron variant G/A snv 4.7E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs314311
rs314311 		7 100824859 non coding transcript exon variant T/G snv 0.17
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs314313
rs314313 		1.000 0.040 7 100825743 intron variant T/A;C;G snv 0.29
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs314313
rs314313 		1.000 0.040 7 100825743 intron variant T/A;C;G snv 0.29
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs314349
rs314349 		7 100804203 intron variant T/C;G snv
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs377702127
rs377702127 		1.000 7 100806486 stop gained G/A;C snv 2.0E-05
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 1.000 1 2017 2017
dbSNP: rs1159930961
rs1159930961 		1.000 7 100807526 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 0
dbSNP: rs1562967463
rs1562967463 		1.000 7 100807364 splice donor variant C/G snv
CUI: C4310629
Disease: LYMPHATIC MALFORMATION 7
LYMPHATIC MALFORMATION 7 		0.700 0
dbSNP: rs1562973541
rs1562973541 		1.000 7 100822446 frameshift variant CA/- delins
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 0
dbSNP: rs1562973614
rs1562973614 		1.000 7 100822508 frameshift variant -/C delins
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 0
dbSNP: rs1562976493
rs1562976493 		1.000 7 100826998 frameshift variant C/- del
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.700 0