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: rs11672232
rs11672232 		0.851 0.040 19 10995924 missense variant C/T snv 0.31 0.32
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs12232780
rs12232780 		0.807 0.080 19 11021404 non coding transcript exon variant G/A snv 0.23
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1122608
rs1122608 		0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs112374545
rs112374545 		19 11078223 intron variant C/T snv 0.11
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 3 2015 2019
dbSNP: rs73015011
rs73015011 		19 11079088 missense variant T/C snv 0.13
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs1122608
rs1122608 		0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs12052201
rs12052201 		19 11048420 intron variant G/T snv 0.17
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1529729
rs1529729 		19 11052886 intron variant C/T snv 0.58
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17001095
rs17001095 		19 11022596 intron variant A/G snv 0.33
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3786722
rs3786722 		19 11050861 intron variant C/A snv 0.18
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1122608
rs1122608 		0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1529729
rs1529729 		19 11052886 intron variant C/T snv 0.58
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10423733
rs10423733 		19 11075243 intron variant T/C snv 0.32
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs55997232
rs55997232 		19 11077441 intron variant C/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs56125973
rs56125973 		1.000 0.040 19 11077488 intron variant T/C snv 0.13
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs56289821
rs56289821 		1.000 0.040 19 11077571 intron variant G/A snv 0.10
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1060502088
rs1060502088 		1.000 0.040 19 11039495 frameshift variant G/- del
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs1475054297
rs1475054297 		1.000 0.040 19 11033519 splice donor variant T/A;C snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs1555774786
rs1555774786 		1.000 0.040 19 11013113 splice donor variant G/A snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs1555785056
rs1555785056 		1.000 0.040 19 11034202 splice donor variant T/C snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs1568430280
rs1568430280 		1.000 0.040 19 10989315 splice acceptor variant A/C snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs1568462513
rs1568462513 		1.000 0.040 19 11007900 splice acceptor variant A/G snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs972341316
rs972341316 		1.000 0.040 19 10989339 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs1060502085
rs1060502085 		1.000 0.040 19 10986494 frameshift variant C/- delins
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs1060502102
rs1060502102 		1.000 0.040 19 11023517 splice acceptor variant G/A snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0