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: rs104895506
rs104895506 		1.000 19 54938096 missense variant G/A;T snv 2.7E-04; 4.0E-06
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1 		0.800 1.000 8 2006 2014
dbSNP: rs104895502
rs104895502 		1.000 19 54938095 missense variant C/A;G;T snv 4.8E-05; 8.0E-06
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1 		0.800 0
dbSNP: rs104895503
rs104895503 		1.000 19 54930571 missense variant T/C snv 1.4E-04 4.7E-04
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1 		0.800 0
dbSNP: rs104895549
rs104895549 		1.000 19 54938222 missense variant G/A snv
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1 		0.800 0
dbSNP: rs104895512
rs104895512 		1.000 19 54936313 missense variant G/C snv 5.3E-04 9.1E-05
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1 		0.700 1.000 3 2008 2013
dbSNP: rs143981324
rs143981324 		19 54908273 intron variant C/T snv 0.89
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2278428
rs2278428 		19 54906696 missense variant C/A snv 0.91
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs104895505
rs104895505 		1.000 19 54934488 splice donor variant C/T snv 5.2E-05 7.0E-05
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1 		0.700 0
dbSNP: rs104895525
rs104895525 		1.000 19 54936400 missense variant G/A snv 6.0E-05 2.1E-05
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1 		0.700 0
dbSNP: rs104895550
rs104895550 		1.000 19 54936415 missense variant G/C snv 4.8E-05 1.1E-04
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1 		0.700 0
dbSNP: rs104895552
rs104895552 		1.000 19 54936279 missense variant C/T snv
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1 		0.700 0
dbSNP: rs104895554
rs104895554 		1.000 19 54938143 frameshift variant A/- del
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1 		0.700 0
dbSNP: rs140797839
rs140797839 		1.000 0.040 19 54933725 missense variant C/T snv 4.8E-05 6.3E-05
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs753861648
rs753861648 		1.000 0.120 19 54906742 missense variant G/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs753861648
rs753861648 		1.000 0.120 19 54906742 missense variant G/C snv 4.0E-06
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019