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: rs1029044314
rs1029044314
DDR1
0.851 0.040 6 30898095 missense variant G/A snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs1029044314
rs1029044314
DDR1
0.851 0.040 6 30898095 missense variant G/A snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs1029044314
rs1029044314
DDR1
0.851 0.040 6 30898095 missense variant G/A snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2017 2017
dbSNP: rs1029044314
rs1029044314
DDR1
0.851 0.040 6 30898095 missense variant G/A snv
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs1049623
rs1049623
DDR1
0.925 0.200 6 30897052 synonymous variant T/C snv 0.47 0.43
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2017 2017
dbSNP: rs1049623
rs1049623
DDR1
0.925 0.200 6 30897052 synonymous variant T/C snv 0.47 0.43
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2007 2007
dbSNP: rs1049633
rs1049633
DDR1
1.000 0.160 6 30899750 3 prime UTR variant G/A snv 7.6E-02
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2017 2017
dbSNP: rs1264320
rs1264320
DDR1
0.882 0.400 6 30893223 intron variant C/T snv 0.32 0.28
CUI: C3853540
Disease: Aspirin exacerbated respiratory disease
Aspirin exacerbated respiratory disease 		0.010 1.000 1 2012 2012
dbSNP: rs1264320
rs1264320
DDR1
0.882 0.400 6 30893223 intron variant C/T snv 0.32 0.28
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2012 2012
dbSNP: rs1264320
rs1264320
DDR1
0.882 0.400 6 30893223 intron variant C/T snv 0.32 0.28
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2012 2012
dbSNP: rs1264323
rs1264323
DDR1
1.000 0.040 6 30888130 intron variant G/A snv 0.43
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2019 2019
dbSNP: rs1325081370
rs1325081370
DDR1
6 30898263 missense variant G/A snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs1325081370
rs1325081370
DDR1
6 30898263 missense variant G/A snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs140296720
rs140296720
DDR1
0.925 0.080 6 30896816 missense variant G/A snv 4.3E-06
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2014 2014
dbSNP: rs140296720
rs140296720
DDR1
0.925 0.080 6 30896816 missense variant G/A snv 4.3E-06
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs2267641
rs2267641
DDR1
0.925 0.040 6 30897427 synonymous variant A/C snv 0.24 0.18
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 1.000 1 2010 2010
dbSNP: rs2267641
rs2267641
DDR1
0.925 0.040 6 30897427 synonymous variant A/C snv 0.24 0.18
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.010 1.000 1 2010 2010
dbSNP: rs4618569
rs4618569
DDR1
0.925 0.040 6 30887474 intron variant G/A snv 0.25
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 1.000 1 2010 2010
dbSNP: rs4618569
rs4618569
DDR1
0.925 0.040 6 30887474 intron variant G/A snv 0.25
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.010 1.000 1 2010 2010
dbSNP: rs766265850
rs766265850
DDR1 ; MIR4640
0.851 0.040 6 30889239 missense variant G/A snv 8.1E-06 7.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2017 2017
dbSNP: rs766265850
rs766265850
DDR1 ; MIR4640
0.851 0.040 6 30889239 missense variant G/A snv 8.1E-06 7.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs766265850
rs766265850
DDR1 ; MIR4640
0.851 0.040 6 30889239 missense variant G/A snv 8.1E-06 7.0E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs766265850
rs766265850
DDR1 ; MIR4640
0.851 0.040 6 30889239 missense variant G/A snv 8.1E-06 7.0E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs921859872
rs921859872
DDR1
1.000 0.080 6 30895461 missense variant C/A;T snv 4.1E-06; 1.6E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 1.000 1 2019 2019