Disease: Rhabdoid Tumor Predisposition Syndrome 2 ×
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: 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
dbSNP: rs1555754293
rs1555754293 		1.000 0.040 19 10986967 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs1555755067
rs1555755067 		1.000 0.040 19 10987786 frameshift variant CCGCA/- delins
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs1555756326
rs1555756326 		1.000 0.040 19 10989353 inframe deletion TGA/- del
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs1555757738
rs1555757738 		1.000 0.040 19 10991312 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs1555771571
rs1555771571 		1.000 0.040 19 11007932 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs1555773269
rs1555773269 		1.000 0.040 19 11010421 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs1555774702
rs1555774702 		1.000 0.040 19 11013002 frameshift variant C/- delins
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs1555787120
rs1555787120 		1.000 0.040 19 11039467 frameshift variant GG/C delins
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs1555795884
rs1555795884 		1.000 0.040 19 11059777 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs1568419675
rs1568419675 		1.000 0.040 19 10985279 stop gained G/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs1568422286
rs1568422286 		1.000 0.040 19 10986326 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs1568455217
rs1568455217 		1.000 0.040 19 11003047 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs1568456200
rs1568456200 		0.925 0.040 19 11003338 splice donor variant TGAAGTAGCTCCGAGGTCTGATAGTGAAGAAAGTGGCTCAGAAGAAGAGGAAGAGGTA/- delins
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs1568498107
rs1568498107 		1.000 0.040 19 11027783 splice acceptor variant G/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs267607070
rs267607070 		1.000 0.040 19 11033308 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0
dbSNP: rs372319442
rs372319442 		1.000 0.040 19 11060110 missense variant G/A;T snv 3.3E-05; 6.6E-06
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 0