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: rs112374545
rs112374545
SMARCA4
19 11078223 intron variant C/T snv 0.11
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2015 2019
dbSNP: rs112374545
rs112374545
SMARCA4
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: 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: rs73015011
rs73015011
SMARCA4
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: rs73015011
rs73015011
SMARCA4
19 11079088 missense variant T/C snv 0.13
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs10423733
rs10423733
SMARCA4
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: rs12052201
rs12052201
SMARCA4
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: rs12052201
rs12052201
SMARCA4
19 11048420 intron variant G/T snv 0.17
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
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
dbSNP: rs1529729
rs1529729
SMARCA4
19 11052886 intron variant C/T snv 0.58
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1529729
rs1529729
SMARCA4
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: rs1529729
rs1529729
SMARCA4
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: 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: rs189596789
rs189596789
SMARCA4
19 11078944 intron variant G/A snv 1.9E-03
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2013 2013
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: rs55997232
rs55997232
SMARCA4
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: 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: rs1469271544
rs1469271544
SMARCA4
19 10986368 stop gained C/T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		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: rs1122608
rs1122608
SMARCA4
0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.820 1.000 5 2011 2016
dbSNP: rs1122608
rs1122608
SMARCA4
0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.720 1.000 3 2014 2016
dbSNP: rs1122608
rs1122608
SMARCA4
0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.810 0.500 2 2009 2014
dbSNP: rs1122608
rs1122608
SMARCA4
0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.710 1.000 2 2014 2014