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: rs281875226
rs281875226
SMARCA4
1.000 19 11019661 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 2010 2017
dbSNP: rs281875227
rs281875227
SMARCA4
1.000 19 11021761 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 2010 2017
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: rs281875226
rs281875226
SMARCA4
1.000 19 11019661 missense variant C/T snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.800 1.000 1 2012 2012
dbSNP: rs281875227
rs281875227
SMARCA4
1.000 19 11021761 missense variant C/T snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.800 1.000 1 2012 2012
dbSNP: rs281875228
rs281875228
SMARCA4
1.000 19 11021869 missense variant C/T snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.800 1.000 1 2012 2012
dbSNP: rs281875229
rs281875229
SMARCA4
1.000 19 11024389 missense variant T/C snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.800 1.000 1 2012 2012
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: 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