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: rs737582
rs737582
CNTN5
1.000 0.040 11 99992669 intron variant G/A snv 0.39
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		0.010 1.000 1 2009 2009
dbSNP: rs7678287
rs7678287
SLC2A9 ; LOC105374476
1.000 0.080 4 9998877 intron variant A/C;G;T snv
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2019 2019
dbSNP: rs7754794
rs7754794
MCHR2
1.000 0.040 6 99984779 intron variant C/A;T snv
CUI: C0154437
Disease: Atypical depressive disorder
Atypical depressive disorder 		0.010 1.000 1 2015 2015
dbSNP: rs1831992
rs1831992
ZIC2
1.000 0.080 13 99983123 synonymous variant C/T snv 8.1E-02 7.8E-02
CUI: C0037917
Disease: Spina Bifida Cystica
Spina Bifida Cystica 		0.010 < 0.001 1 2004 2004
dbSNP: rs1831992
rs1831992
ZIC2
1.000 0.080 13 99983123 synonymous variant C/T snv 8.1E-02 7.8E-02
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 < 0.001 1 2004 2004
dbSNP: rs6590474
rs6590474
CNTN5
1.000 0.040 11 99982441 intron variant A/C snv 0.71
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		0.010 1.000 1 2009 2009
dbSNP: rs4215
rs4215
AZGP1
1.000 0.080 7 99971771 missense variant G/A;C snv 0.41
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2012 2012
dbSNP: rs2276939
rs2276939
H2AZ1 ; H2AZ1-DT
1.000 0.040 4 99949218 non coding transcript exon variant T/A;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.020 1.000 2 2015 2015
dbSNP: rs10014424
rs10014424
DNAJB14
1.000 0.040 4 99943207 intron variant G/A snv 6.2E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2015 2015
dbSNP: rs6854536
rs6854536
DNAJB14
1.000 0.040 4 99941725 intron variant T/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2015 2015
dbSNP: rs3775948
rs3775948
SLC2A9 ; LOC105374476
0.882 0.160 4 9993558 intron variant G/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2016 2016
dbSNP: rs11974610
rs11974610
GJC3
7 99930354 intron variant G/A snv 0.30
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 1.000 1 2011 2011
dbSNP: rs11974610
rs11974610
GJC3
7 99930354 intron variant G/A snv 0.30
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 1.000 1 2011 2011
dbSNP: rs6449213
rs6449213
SLC2A9 ; LOC105374476
0.827 0.240 4 9992591 intron variant C/T snv 0.82
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.010 1.000 1 2010 2010
dbSNP: rs6449213
rs6449213
SLC2A9 ; LOC105374476
0.827 0.240 4 9992591 intron variant C/T snv 0.82
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.010 1.000 1 2008 2008
dbSNP: rs6449213
rs6449213
SLC2A9 ; LOC105374476
0.827 0.240 4 9992591 intron variant C/T snv 0.82
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.010 1.000 1 2010 2010
dbSNP: rs118203964
rs118203964
AGL
0.882 0.080 1 99916492 missense variant G/C snv
CUI: C1968739
Disease: Glycogen Storage Disease IIIA
Glycogen Storage Disease IIIA 		0.710 1.000 1 1999 1999
dbSNP: rs118203964
rs118203964
AGL
0.882 0.080 1 99916492 missense variant G/C snv
CUI: C3695007
Disease: GLYCOGEN STORAGE DISEASE, TYPE IIIa
GLYCOGEN STORAGE DISEASE, TYPE IIIa 		0.010 1.000 1 1999 1999
dbSNP: rs267606640
rs267606640
AGL
0.882 0.120 1 99913557 stop gained G/A snv 5.6E-05 5.6E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 1.000 1 2008 2008
dbSNP: rs267606640
rs267606640
AGL
0.882 0.120 1 99913557 stop gained G/A snv 5.6E-05 5.6E-05
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia 		0.010 1.000 1 2008 2008
dbSNP: rs267606640
rs267606640
AGL
0.882 0.120 1 99913557 stop gained G/A snv 5.6E-05 5.6E-05
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		0.710 1.000 1 2002 2013
dbSNP: rs267606640
rs267606640
AGL
0.882 0.120 1 99913557 stop gained G/A snv 5.6E-05 5.6E-05
CUI: C0015672
Disease: Fatigue
Fatigue 		0.010 1.000 1 2008 2008
dbSNP: rs113994131
rs113994131
AGL
0.925 0.080 1 99902776 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1968739
Disease: Glycogen Storage Disease IIIA
Glycogen Storage Disease IIIA 		0.010 1.000 1 1996 1996
dbSNP: rs267606639
rs267606639
AGL
0.925 0.080 1 99900712 missense variant A/G snv
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		0.010 1.000 1 2009 2009
dbSNP: rs3740058
rs3740058
DNMBP
1.000 0.080 10 99896225 intron variant G/A snv 0.34 0.31
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 < 0.001 1 2015 2015