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: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.900 0.961 47 2007 2020
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: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.100 0.833 12 2007 2019
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.070 1.000 7 2007 2020
dbSNP: rs901312933
rs901312933
ATG16L1
0.882 0.120 2 233282746 missense variant G/A;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.060 1.000 6 2007 2016
dbSNP: rs2241879
rs2241879
ATG16L1 ; SCARNA5
0.882 0.080 2 233274822 intron variant G/A snv 0.45 0.44
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.030 1.000 3 2008 2012
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2014 2016
dbSNP: rs901312933
rs901312933
ATG16L1
0.882 0.120 2 233282746 missense variant G/A;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.020 1.000 2 2009 2010
dbSNP: rs13005285
rs13005285
ATG16L1
0.882 0.080 2 233286311 intron variant T/G snv 0.56
CUI: C0030246
Disease: Pustulosis of Palms and Soles
Pustulosis of Palms and Soles 		0.010 1.000 1 2011 2011
dbSNP: rs13005285
rs13005285
ATG16L1
0.882 0.080 2 233286311 intron variant T/G snv 0.56
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		0.010 1.000 1 2011 2011
dbSNP: rs13005285
rs13005285
ATG16L1
0.882 0.080 2 233286311 intron variant T/G snv 0.56
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		0.010 1.000 1 2011 2011
dbSNP: rs1460966559
rs1460966559
ATG16L1
1.000 0.040 2 233270020 synonymous variant G/A snv 7.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2013 2013
dbSNP: rs1474156473
rs1474156473
ATG16L1
0.925 0.040 2 233293259 synonymous variant T/C snv 7.0E-06
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 1.000 1 2009 2009
dbSNP: rs1474156473
rs1474156473
ATG16L1
0.925 0.040 2 233293259 synonymous variant T/C snv 7.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2009 2009
dbSNP: rs1474156473
rs1474156473
ATG16L1
0.925 0.040 2 233293259 synonymous variant T/C snv 7.0E-06
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 1.000 1 2009 2009
dbSNP: rs2241877
rs2241877
ATG16L1
1.000 0.040 2 233277843 intron variant A/G snv 0.69
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 1.000 1 2017 2017
dbSNP: rs2241879
rs2241879
ATG16L1 ; SCARNA5
0.882 0.080 2 233274822 intron variant G/A snv 0.45 0.44
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		0.010 1.000 1 2011 2011
dbSNP: rs2241879
rs2241879
ATG16L1 ; SCARNA5
0.882 0.080 2 233274822 intron variant G/A snv 0.45 0.44
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 1.000 1 2012 2012
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		0.010 1.000 1 2017 2017
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2016 2016
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.010 1.000 1 2019 2019
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.010 1.000 1 2015 2015
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0030524
Disease: Paratuberculosis
Paratuberculosis 		0.010 1.000 1 2014 2014
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 1.000 1 2016 2016