Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2280543
rs2280543
BET1L
0.925 0.080 11 203788 3 prime UTR variant C/T snv 4.7E-02
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.830 1.000 4 2011 2018
dbSNP: rs11602954
rs11602954
BET1L
11 202856 intron variant G/A snv 0.17
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 2 2014 2019
dbSNP: rs11602954
rs11602954
BET1L
11 202856 intron variant G/A snv 0.17
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.800 1.000 2 2009 2012
dbSNP: rs3782123
rs3782123
BET1L
11 205198 3 prime UTR variant C/A snv 0.61
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2016 2019
dbSNP: rs3782123
rs3782123
BET1L
11 205198 3 prime UTR variant C/A snv 0.61
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 2 2016 2019
dbSNP: rs11245998
rs11245998
BET1L ; RIC8A ; MIR6743
11 207462 upstream gene variant A/G snv 0.68
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs11604127
rs11604127
BET1L ; ODF3
11 196944 5 prime UTR variant C/T snv 0.17
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs11604127
rs11604127
BET1L ; ODF3
11 196944 5 prime UTR variant C/T snv 0.17
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2280543
rs2280543
BET1L
0.925 0.080 11 203788 3 prime UTR variant C/T snv 4.7E-02
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2011 2011
dbSNP: rs2294081
rs2294081
BET1L ; SCGB1C1
11 193863 stop gained T/A;C snv
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs3782122
rs3782122
BET1L ; RIC8A
11 205780 non coding transcript exon variant T/A snv 4.7E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
dbSNP: rs3782122
rs3782122
BET1L ; RIC8A
11 205780 non coding transcript exon variant T/A snv 4.7E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7124615
rs7124615
BET1L ; SCGB1C1 ; LOC388572
1.000 11 186604 intron variant T/C snv 0.25
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2019 2019
dbSNP: rs7124615
rs7124615
BET1L ; SCGB1C1 ; LOC388572
1.000 11 186604 intron variant T/C snv 0.25
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.700 1.000 1 2019 2019
dbSNP: rs72878024
rs72878024
BET1L ; ODF3
1.000 0.040 11 199492 missense variant G/A snv 6.4E-02 6.4E-02
CUI: C0574785
Disease: Lower Urinary Tract Symptoms
Lower Urinary Tract Symptoms 		0.700 1.000 1 2018 2018
dbSNP: rs72878024
rs72878024
BET1L ; ODF3
1.000 0.040 11 199492 missense variant G/A snv 6.4E-02 6.4E-02
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.700 1.000 1 2018 2018
dbSNP: rs113795008
rs113795008
BET1L ; SCGB1C1
1.000 0.120 11 192836 intron variant A/G snv 0.17
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		0.010 1.000 1 2018 2018
dbSNP: rs2280540
rs2280540
BET1L ; SCGB1C1
1.000 0.120 11 192997 intron variant G/A;C;T snv
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		0.010 1.000 1 2018 2018
dbSNP: rs2280543
rs2280543
BET1L
0.925 0.080 11 203788 3 prime UTR variant C/T snv 4.7E-02
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		0.010 1.000 1 2019 2019