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: rs979090956
rs979090956
ABCB1
0.827 0.200 7 87553822 missense variant G/C snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2008 2008
dbSNP: rs979090956
rs979090956
ABCB1
0.827 0.200 7 87553822 missense variant G/C snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2008 2008
dbSNP: rs979090956
rs979090956
ABCB1
0.827 0.200 7 87553822 missense variant G/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs979090956
rs979090956
ABCB1
0.827 0.200 7 87553822 missense variant G/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs979090956
rs979090956
ABCB1
0.827 0.200 7 87553822 missense variant G/C snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2008 2008
dbSNP: rs966923314
rs966923314
ABCB1
1.000 0.040 7 87601026 5 prime UTR variant T/C snv 7.0E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2011 2011
dbSNP: rs952222278
rs952222278
ABCB1
1.000 0.080 7 87550238 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		0.010 1.000 1 2009 2009
dbSNP: rs9282564
rs9282564
ABCB1
1.000 0.080 7 87600124 missense variant T/A;C;G snv 7.3E-02 7.3E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 1.000 1 2003 2003
dbSNP: rs9282564
rs9282564
ABCB1
1.000 0.080 7 87600124 missense variant T/A;C;G snv 7.3E-02 7.3E-02
CUI: C0524662
Disease: Opiate Addiction
Opiate Addiction 		0.010 1.000 1 2016 2016
dbSNP: rs868755
rs868755
ABCB1
1.000 0.080 7 87560614 intron variant T/G snv 0.68
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs758194199
rs758194199
ABCB1
0.925 0.080 7 87549459 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018
dbSNP: rs758194199
rs758194199
ABCB1
0.925 0.080 7 87549459 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs749574370
rs749574370
ABCB1
0.925 0.080 7 87545934 missense variant T/A;G snv 4.0E-06; 4.0E-06
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		0.010 1.000 1 2009 2009
dbSNP: rs749574370
rs749574370
ABCB1
0.925 0.080 7 87545934 missense variant T/A;G snv 4.0E-06; 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs745614189
rs745614189
ABCB1
7 87549387 synonymous variant G/A snv 4.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2015 2015
dbSNP: rs6949448
rs6949448
ABCB1
1.000 0.040 7 87512498 intron variant T/C snv 0.63
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 < 0.001 1 2011 2011
dbSNP: rs56364292
rs56364292
ABCB1
7 87558776 intron variant C/T snv 0.10
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs533117495
rs533117495
ABCB1
0.827 0.200 7 87595783 missense variant C/T snv 8.0E-06
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		0.010 1.000 1 2009 2009
dbSNP: rs533117495
rs533117495
ABCB1
0.827 0.200 7 87595783 missense variant C/T snv 8.0E-06
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2009 2009
dbSNP: rs533117495
rs533117495
ABCB1
0.827 0.200 7 87595783 missense variant C/T snv 8.0E-06
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		0.010 < 0.001 1 2009 2009
dbSNP: rs533117495
rs533117495
ABCB1
0.827 0.200 7 87595783 missense variant C/T snv 8.0E-06
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 1.000 1 2009 2009
dbSNP: rs533117495
rs533117495
ABCB1
0.827 0.200 7 87595783 missense variant C/T snv 8.0E-06
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs45456698
rs45456698
ABCB1
1.000 0.080 7 87504335 missense variant C/T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs4148739
rs4148739
ABCB1
1.000 0.040 7 87531733 intron variant T/C snv 0.13
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2019 2019
dbSNP: rs4148738
rs4148738
ABCB1
0.925 0.120 7 87533733 intron variant C/T snv 0.62
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2016 2016