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: rs1060499936
rs1060499936
SMARCA4
1.000 19 11021959 missense variant G/A snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.700 0
dbSNP: rs1060502085
rs1060502085
SMARCA4
1.000 0.040 19 10986494 frameshift variant C/- delins
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs1060502102
rs1060502102
SMARCA4
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 		0.700 0
dbSNP: rs1469271544
rs1469271544
SMARCA4
19 10986368 stop gained C/T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1555754293
rs1555754293
SMARCA4
1.000 0.040 19 10986967 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs1555755067
rs1555755067
SMARCA4
1.000 0.040 19 10987786 frameshift variant CCGCA/- delins
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs1555756326
rs1555756326
SMARCA4
1.000 0.040 19 10989353 inframe deletion TGA/- del
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs1555757738
rs1555757738
SMARCA4
1.000 0.040 19 10991312 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs1555763642
rs1555763642
SMARCA4
19 10996285 stop gained C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555771571
rs1555771571
SMARCA4
1.000 0.040 19 11007932 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs1555773269
rs1555773269
SMARCA4
1.000 0.040 19 11010421 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs1555774702
rs1555774702
SMARCA4
1.000 0.040 19 11013002 frameshift variant C/- delins
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs1555787120
rs1555787120
SMARCA4
1.000 0.040 19 11039467 frameshift variant GG/C delins
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs1555787120
rs1555787120
SMARCA4
1.000 0.040 19 11039467 frameshift variant GG/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555795884
rs1555795884
SMARCA4
1.000 0.040 19 11059777 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs1568419675
rs1568419675
SMARCA4
1.000 0.040 19 10985279 stop gained G/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs1568422286
rs1568422286
SMARCA4
1.000 0.040 19 10986326 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs1568455217
rs1568455217
SMARCA4
1.000 0.040 19 11003047 stop gained C/T snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs1568456200
rs1568456200
SMARCA4
0.925 0.040 19 11003338 splice donor variant TGAAGTAGCTCCGAGGTCTGATAGTGAAGAAAGTGGCTCAGAAGAAGAGGAAGAGGTA/- delins
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.700 0
dbSNP: rs1568456200
rs1568456200
SMARCA4
0.925 0.040 19 11003338 splice donor variant TGAAGTAGCTCCGAGGTCTGATAGTGAAGAAAGTGGCTCAGAAGAAGAGGAAGAGGTA/- delins
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs1568486679
rs1568486679
SMARCA4
0.882 0.080 19 11021755 missense variant G/A snv
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1568486679
rs1568486679
SMARCA4
0.882 0.080 19 11021755 missense variant G/A snv
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		0.700 0
dbSNP: rs1568486679
rs1568486679
SMARCA4
0.882 0.080 19 11021755 missense variant G/A snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.700 0
dbSNP: rs1568486679
rs1568486679
SMARCA4
0.882 0.080 19 11021755 missense variant G/A snv
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		0.700 0
dbSNP: rs1568486679
rs1568486679
SMARCA4
0.882 0.080 19 11021755 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0