Source: BEFREE

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: rs1004446
rs1004446
IGF2 ; IGF2-AS ; INS-IGF2
0.827 0.240 11 2148913 intron variant G/A snv 0.37
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.810 1.000 1 2007 2017
dbSNP: rs10045431
rs10045431 		0.851 0.240 5 159387525 intron variant A/C snv 0.78
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.810 1.000 1 2008 2014
dbSNP: rs1014290
rs1014290
SLC2A9 ; LOC105374476
0.827 0.280 4 10000237 intron variant G/A snv 0.72
CUI: C0018099
Disease: Gout
Gout 		0.810 1.000 1 2010 2019
dbSNP: rs10195252
rs10195252
COBLL1
0.925 0.080 2 164656581 intron variant T/C snv 0.48
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.810 1.000 1 2012 2019
dbSNP: rs10197862
rs10197862
IL18R1 ; IL1RL1
0.925 0.120 2 102350089 intron variant A/G snv 0.18
CUI: C0004096
Disease: Asthma
Asthma 		0.810 1.000 1 2011 2014
dbSNP: rs10201872
rs10201872
SP140
1.000 0.080 2 230242009 intron variant C/T snv 0.13
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.810 1.000 1 2011 2015
dbSNP: rs10210302
rs10210302
ATG16L1
1.000 0.040 2 233250193 intron variant C/A;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.810 1.000 1 2007 2010
dbSNP: rs102275
rs102275
TMEM258
0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.810 1.000 1 2010 2018
dbSNP: rs1024161
rs1024161 		0.925 0.160 2 203857029 intergenic variant T/A;C snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.810 1.000 1 2011 2019
dbSNP: rs1035209
rs1035209 		0.790 0.080 10 99585609 intergenic variant C/T snv 0.15
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.810 1.000 1 2014 2019
dbSNP: rs10440635
rs10440635 		1.000 0.040 5 40490688 intron variant G/A snv 0.56
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.810 1.000 1 2011 2013
dbSNP: rs1044873
rs1044873
IRF8
0.925 0.120 16 85922065 3 prime UTR variant C/T snv 0.40
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.810 1.000 1 2013 2014
dbSNP: rs1048095
rs1048095
ABCC8
1.000 0.080 11 17461731 missense variant A/G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 1.000 1 2006 2007
dbSNP: rs10484554
rs10484554
HLA-B ; LOC112267902
0.807 0.200 6 31306778 intron variant C/T snv 0.12
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.810 1.000 1 2008 2018
dbSNP: rs10488631
rs10488631
TNPO3
0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.810 1.000 1 2010 2019
dbSNP: rs104893634
rs104893634
HOXD10
1.000 0.080 2 176119164 missense variant T/A snv
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.810 1.000 1 2004 2006
dbSNP: rs104893645
rs104893645
MATN3
0.925 0.080 2 20005953 missense variant A/T snv
CUI: C1846843
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.810 1.000 1 2001 2019
dbSNP: rs104893653
rs104893653
PAX3 ; CCDC140
1.000 0.040 2 222297160 missense variant T/G snv
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		0.810 1.000 1 1993 2003
dbSNP: rs104893689
rs104893689
CASR
0.790 0.200 3 122261589 missense variant G/A;C snv
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		0.810 1.000 1 1976 2016
dbSNP: rs104893824
rs104893824
VHL
0.776 0.320 3 10142181 missense variant T/A;C snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.810 1.000 1 1993 2017
dbSNP: rs104893829
rs104893829
VHL
0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.810 1.000 1 1993 2017
dbSNP: rs104893832
rs104893832
WNT7A
0.925 0.080 3 13854777 missense variant C/T snv 8.0E-06
CUI: C1856728
Disease: Fuhrmann syndrome
Fuhrmann syndrome 		0.810 1.000 1 2006 2011
dbSNP: rs104893835
rs104893835
WNT7A
0.851 0.120 3 13819120 missense variant G/A snv
CUI: C1848651
Disease: Al Awadi syndrome
Al Awadi syndrome 		0.810 1.000 1 2006 2016
dbSNP: rs104893863
rs104893863
QDPR
0.925 0.120 4 17511987 missense variant C/T snv 1.4E-05
CUI: C0268465
Disease: Phenylketonuria II
Phenylketonuria II 		0.810 1.000 1 1990 2007
dbSNP: rs104893912
rs104893912
NR3C1
1.000 0.080 5 143281905 missense variant A/G snv
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.810 1.000 1 1991 2019