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: rs797045982
rs797045982
SMARCA4
1.000 0.040 19 11030821 frameshift variant -/G delins
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs1568430280
rs1568430280
SMARCA4
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 		0.700 1.000 2 2014 2014
dbSNP: rs55791371
rs55791371
SMARCA4
0.925 0.080 19 11077477 intron variant A/C snv 0.11
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.700 1.000 1 2015 2015
dbSNP: rs55791371
rs55791371
SMARCA4
0.925 0.080 19 11077477 intron variant A/C snv 0.11
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2018 2018
dbSNP: rs55791371
rs55791371
SMARCA4
0.925 0.080 19 11077477 intron variant A/C snv 0.11
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		0.800 1.000 1 2012 2012
dbSNP: rs1568462513
rs1568462513
SMARCA4
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 		0.700 1.000 2 2014 2014
dbSNP: rs11085754
rs11085754
SMARCA4
0.925 0.120 19 11017920 intron variant A/G snv 0.41
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs11085754
rs11085754
SMARCA4
0.925 0.120 19 11017920 intron variant A/G snv 0.41
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2015 2015
dbSNP: rs17001095
rs17001095
SMARCA4
19 11022596 intron variant A/G snv 0.33
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs17001095
rs17001095
SMARCA4
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: rs78157521
rs78157521
SMARCA4
19 11038272 intron variant A/G snv 4.7E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs876657378
rs876657378
SMARCA4
1.000 19 10996250 inframe deletion AAG/- delins
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.700 0
dbSNP: rs780424104
rs780424104
SMARCA4
1.000 0.040 19 10985350 frameshift variant AG/- del
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		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: 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: rs797045980
rs797045980
SMARCA4
1.000 0.040 19 11023578 frameshift variant C/- delins
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs3786722
rs3786722
SMARCA4
19 11050861 intron variant C/A snv 0.18
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3786722
rs3786722
SMARCA4
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: rs587777463
rs587777463
SMARCA4
1.000 0.040 19 11021722 splice region variant C/A;G snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs758517117
rs758517117
SMARCA4
1.000 0.040 19 11058301 stop gained C/A;T snv 4.0E-06
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 0
dbSNP: rs770014321
rs770014321
SMARCA4
1.000 19 11025467 missense variant C/A;T snv 4.0E-06
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.700 0
dbSNP: rs281875230
rs281875230
SMARCA4
1.000 19 11030816 missense variant C/G snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.800 1.000 1 2012 2012
dbSNP: rs73013202
rs73013202
SMARCA4
1.000 0.040 19 11069033 intron variant C/G snv 0.18
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.700 1.000 1 2012 2012
dbSNP: rs143020224
rs143020224
SMARCA4
19 11076648 intron variant C/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs143020224
rs143020224
SMARCA4
19 11076648 intron variant C/G;T snv
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.700 1.000 1 2019 2019