Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913046
rs121913046 		0.882 0.240 2 127292726 missense variant T/G snv
CUI: C4225344
Disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE
TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE 		0.800 0
dbSNP: rs1011019
rs1011019 		2 127279984 intron variant A/G;T snv 0.75
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1011019
rs1011019 		2 127279984 intron variant A/G;T snv 0.75
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1566823
rs1566823 		2 127260616 non coding transcript exon variant A/G snv 0.37
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1566823
rs1566823 		2 127260616 non coding transcript exon variant A/G snv 0.37
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2134794
rs2134794 		2 127273303 intron variant A/C snv 0.20
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3768866
rs3768866 		2 127287839 intron variant G/A snv 0.35
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs3768866
rs3768866 		2 127287839 intron variant G/A snv 0.35
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150402
rs4150402 		2 127292558 3 prime UTR variant T/C snv 0.76
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150402
rs4150402 		2 127292558 3 prime UTR variant T/C snv 0.76
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150407
rs4150407 		1.000 0.120 2 127292055 3 prime UTR variant T/C snv 0.47
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150407
rs4150407 		1.000 0.120 2 127292055 3 prime UTR variant T/C snv 0.47
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150416
rs4150416 		2 127288972 intron variant C/A snv 0.66
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4150441
rs4150441 		0.882 0.040 2 127283339 intron variant T/C snv 0.37
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150441
rs4150441 		0.882 0.040 2 127283339 intron variant T/C snv 0.37
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150454
rs4150454 		2 127280968 synonymous variant T/C snv 0.37
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150454
rs4150454 		2 127280968 synonymous variant T/C snv 0.37
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150471
rs4150471 		2 127276963 intron variant A/G snv 0.76
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150471
rs4150471 		2 127276963 intron variant A/G snv 0.76
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150474
rs4150474 		2 127275751 intron variant C/A snv 0.74
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150474
rs4150474 		2 127275751 intron variant C/A snv 0.74
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150477
rs4150477 		2 127274970 intron variant G/A snv 0.35
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150477
rs4150477 		2 127274970 intron variant G/A snv 0.35
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150496
rs4150496 		2 127271927 intron variant C/A;T snv 0.35
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150496
rs4150496 		2 127271927 intron variant C/A;T snv 0.35
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010