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: rs11166389
rs11166389
SLC35A3 ; RNU6-1318P
1.000 0.040 1 100000723 non coding transcript exon variant G/A snv 0.15
CUI: C0017638
Disease: Glioma
Glioma 		0.700 1.000 1 2009 2009
dbSNP: rs11166389
rs11166389
SLC35A3 ; RNU6-1318P
1.000 0.040 1 100000723 non coding transcript exon variant G/A snv 0.15
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		0.700 1.000 1 2009 2009
dbSNP: rs11204922
rs11204922
S100A10 ; LOC105371441
1.000 0.040 1 151989099 intron variant T/C snv 0.33
CUI: C2938940
Disease: Post stroke depression
Post stroke depression 		0.010 1.000 1 2018 2018
dbSNP: rs1127311
rs1127311
ADAR ; CHRNB2
1 154584187 3 prime UTR variant G/A snv 0.42
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1127311
rs1127311
ADAR ; CHRNB2
1 154584187 3 prime UTR variant G/A snv 0.42
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1127313
rs1127313
ADAR ; CHRNB2
1.000 0.120 1 154583949 3 prime UTR variant G/A snv 0.41
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2016 2016
dbSNP: rs11559300
rs11559300
GNG5 ; SPATA1
1.000 0.040 1 84506076 missense variant T/C;G snv
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2015 2015
dbSNP: rs11576360
rs11576360
CHD1L ; LINC00624
1 147268917 intron variant A/G snv 0.21
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs11583393
rs11583393
LOC101927871 ; PKN2-AS1
1.000 0.080 1 87963341 intron variant C/A snv 0.21
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs116276359
rs116276359
THEM5 ; C2CD4D-AS1
1 151848954 intron variant C/A snv 1.5E-02
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.700 1.000 1 2019 2019
dbSNP: rs118203985
rs118203985
ADAMTSL4 ; ADAMTSL4-AS2
0.925 0.080 1 150556974 stop gained T/A;G snv 4.0E-06; 2.0E-05
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.010 1.000 1 2010 2010
dbSNP: rs12038299
rs12038299
CAPN2 ; LOC105373041
1 223772690 non coding transcript exon variant G/A snv 0.21
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12042903
rs12042903
MMACHC ; CCDC163
1 45500626 intron variant A/G snv 0.23
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2018 2018
dbSNP: rs12089132
rs12089132
IL6R ; IL6R-AS1
1 154405860 intron variant T/C snv 1.2E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12089132
rs12089132
IL6R ; IL6R-AS1
1 154405860 intron variant T/C snv 1.2E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12123293
rs12123293
KCNH1 ; LOC105372901
1 210739493 intron variant T/C snv 0.36
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1212444447
rs1212444447
HMGCL ; LOC105376861
1.000 0.080 1 23825385 stop gained G/A snv 1.2E-05
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 1 2017 2017
dbSNP: rs12125049
rs12125049
LINC02778 ; LOC105378761
1.000 0.040 1 60202030 intergenic variant C/T snv 0.12
CUI: C0017638
Disease: Glioma
Glioma 		0.700 1.000 1 2009 2009
dbSNP: rs12125049
rs12125049
LINC02778 ; LOC105378761
1.000 0.040 1 60202030 intergenic variant C/T snv 0.12
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		0.700 1.000 1 2009 2009
dbSNP: rs121434557
rs121434557
GJA5 ; LOC102723321
0.882 0.200 1 147758953 missense variant C/A;T snv 1.2E-04 2.0E-04
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2011 2011
dbSNP: rs121434557
rs121434557
GJA5 ; LOC102723321
0.882 0.200 1 147758953 missense variant C/A;T snv 1.2E-04 2.0E-04
CUI: C0683382
Disease: renin-dependent hypertension
renin-dependent hypertension 		0.010 1.000 1 2011 2011
dbSNP: rs121434557
rs121434557
GJA5 ; LOC102723321
0.882 0.200 1 147758953 missense variant C/A;T snv 1.2E-04 2.0E-04
CUI: C0340489
Disease: Lone atrial fibrillation
Lone atrial fibrillation 		0.010 1.000 1 2013 2013
dbSNP: rs121434558
rs121434558
GJA5 ; LOC102723321
0.882 0.120 1 147758977 missense variant G/A snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2018 2018
dbSNP: rs12402181
rs12402181
SGIP1 ; MIR3117
0.882 0.120 1 66628488 mature miRNA variant G/A snv 0.17 0.24
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2018 2018
dbSNP: rs12402181
rs12402181
SGIP1 ; MIR3117
0.882 0.120 1 66628488 mature miRNA variant G/A snv 0.17 0.24
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2018 2018