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: rs1057519893
rs1057519893
ERBB3
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma 		0.700 0
dbSNP: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.830 1.000 7 2007 2019
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.810 1.000 2 2007 2011
dbSNP: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.700 1.000 1 2011 2011
dbSNP: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs34379766
rs34379766
ERBB3
12 56080359 missense variant C/A;T snv 4.6E-06; 4.6E-06
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs877636
rs877636
ERBB3
1.000 0.120 12 56086799 intron variant G/A snv 0.61
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs1057519803
rs1057519803
ERBB3
0.925 0.080 12 56088138 missense variant G/A snv
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs1057519803
rs1057519803
ERBB3
0.925 0.080 12 56088138 missense variant G/A snv
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs1057519817
rs1057519817
ERBB3
12 56088073 missense variant C/A;G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs931676601
rs931676601
ERBB3
12 56097196 missense variant A/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs1057519803
rs1057519803
ERBB3
0.925 0.080 12 56088138 missense variant G/A snv
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		0.010 1.000 1 2015 2015
dbSNP: rs1057519803
rs1057519803
ERBB3
0.925 0.080 12 56088138 missense variant G/A snv
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 1.000 1 2015 2015
dbSNP: rs1057519891
rs1057519891
ERBB3
0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		0.700 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy 		0.010 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2015 2015