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: rs587777676
rs587777676 		1.000 2 219489174 missense variant G/T snv
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.800 1.000 1 2014 2014
dbSNP: rs907683
rs907683 		2 219434819 upstream gene variant G/T snv 0.44
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.700 1.000 2 2016 2018
dbSNP: rs1050816
rs1050816 		2 219493476 3 prime UTR variant C/T snv 0.39
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs566841339
rs566841339 		1.000 0.080 2 219489128 missense variant G/A snv 2.8E-05 2.8E-05
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs587777672
rs587777672 		1.000 2 219484160 stop gained C/A;G;T snv 1.6E-05; 1.6E-05
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 0
dbSNP: rs587777673
rs587777673 		1.000 2 219473732 stop gained C/G;T snv
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 0
dbSNP: rs587777674
rs587777674 		1.000 2 219469371 splice donor variant ACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG/- delins
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 0
dbSNP: rs587777675
rs587777675 		1.000 2 219467207 frameshift variant CC/A delins
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 0
dbSNP: rs757589345
rs757589345 		1.000 0.080 2 219469198 missense variant G/A;C snv 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs762000831
rs762000831 		1.000 0.040 2 219483170 missense variant C/T snv 8.9E-05 1.4E-05
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma 		Neoplasms 0.700 0