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: rs3738919
rs3738919
ITGAV
1.000 0.120 2 186656533 intron variant C/A;G snv 0.28
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.040 0.750 4 2007 2014
dbSNP: rs11902171
rs11902171
ITGAV
0.925 0.080 2 186678500 3 prime UTR variant G/C snv 0.22
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 1.000 2 2011 2012
dbSNP: rs10174098
rs10174098
ITGAV
0.882 0.200 2 186628015 intron variant G/A snv 0.62
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 < 0.001 1 2014 2014
dbSNP: rs10174098
rs10174098
ITGAV
0.882 0.200 2 186628015 intron variant G/A snv 0.62
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.010 1.000 1 2011 2011
dbSNP: rs10174098
rs10174098
ITGAV
0.882 0.200 2 186628015 intron variant G/A snv 0.62
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		0.010 1.000 1 2014 2014
dbSNP: rs11685758
rs11685758
ITGAV
1.000 0.080 2 186668641 non coding transcript exon variant C/T snv 0.27
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs11902171
rs11902171
ITGAV
0.925 0.080 2 186678500 3 prime UTR variant G/C snv 0.22
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2011 2011
dbSNP: rs11902171
rs11902171
ITGAV
0.925 0.080 2 186678500 3 prime UTR variant G/C snv 0.22
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs11902171
rs11902171
ITGAV
0.925 0.080 2 186678500 3 prime UTR variant G/C snv 0.22
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis 		0.010 1.000 1 2011 2011
dbSNP: rs11902171
rs11902171
ITGAV
0.925 0.080 2 186678500 3 prime UTR variant G/C snv 0.22
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2014 2014
dbSNP: rs11902171
rs11902171
ITGAV
0.925 0.080 2 186678500 3 prime UTR variant G/C snv 0.22
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 1.000 1 2011 2011
dbSNP: rs1448427
rs1448427
ITGAV
0.925 0.080 2 186661945 intron variant G/A snv 0.31
CUI: C0085605
Disease: Liver Failure
Liver Failure 		0.010 1.000 1 2011 2011
dbSNP: rs1448427
rs1448427
ITGAV
0.925 0.080 2 186661945 intron variant G/A snv 0.31
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.010 1.000 1 2011 2011
dbSNP: rs1839123
rs1839123
ITGAV
1.000 0.080 2 186678647 3 prime UTR variant C/T snv 0.27
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs201332846
rs201332846
ITGAV
1.000 0.080 2 186646833 missense variant A/G snv 4.0E-06 7.0E-05
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.010 1.000 1 1996 1996
dbSNP: rs2290083
rs2290083
ITGAV
1.000 0.080 2 186669014 intron variant T/C snv 0.36
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs3768777
rs3768777
ITGAV
1.000 0.120 2 186591394 intron variant A/G snv 0.64
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2014 2014
dbSNP: rs3911238
rs3911238
ITGAV
0.925 0.200 2 186605617 intron variant G/C snv 0.22
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.010 1.000 1 2011 2011
dbSNP: rs3911238
rs3911238
ITGAV
0.925 0.200 2 186605617 intron variant G/C snv 0.22
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2014 2014
dbSNP: rs766879669
rs766879669
ITGAV
1.000 0.080 2 186646737 missense variant A/G;T snv 4.0E-06; 8.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.010 1.000 1 1996 1996
dbSNP: rs9333289
rs9333289
ITGAV
1.000 0.080 2 186633380 splice region variant T/A;C snv 0.25
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2009 2009