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: rs4321325
rs4321325
2 127193421 intron variant C/T snv 0.17
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
0.800 1.000 2 2010 2014
dbSNP: rs4321325
rs4321325
2 127193421 intron variant C/T snv 0.17
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.800 1.000 2 2010 2014
dbSNP: rs11683427
rs11683427
2 127198967 intron variant A/G snv 0.22
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
0.700 1.000 1 2010 2010
dbSNP: rs11683427
rs11683427
2 127198967 intron variant A/G snv 0.22
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.700 1.000 1 2010 2010
dbSNP: rs11890243
rs11890243
2 127200465 intron variant C/A;G snv 0.74
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.700 1.000 1 2010 2010
dbSNP: rs11890243
rs11890243
2 127200465 intron variant C/A;G snv 0.74
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
0.700 1.000 1 2010 2010
dbSNP: rs140608390
rs140608390
2 127213606 intron variant T/C snv 9.0E-03
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.700 1.000 1 2017 2017
dbSNP: rs140608390
rs140608390
2 127213606 intron variant T/C snv 9.0E-03
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
0.700 1.000 1 2017 2017
dbSNP: rs1504136
rs1504136
2 127219542 intron variant T/C snv 0.68
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.700 1.000 1 2010 2010
dbSNP: rs1504136
rs1504136
2 127219542 intron variant T/C snv 0.68
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
0.700 1.000 1 2010 2010
dbSNP: rs4284778
rs4284778
2 127188750 intron variant T/C snv 0.13
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.700 1.000 1 2010 2010
dbSNP: rs4284778
rs4284778
2 127188750 intron variant T/C snv 0.13
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
0.700 1.000 1 2010 2010
dbSNP: rs4284779
rs4284779
2 127188924 intron variant T/C snv 0.13
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
0.700 1.000 1 2010 2010
dbSNP: rs4284779
rs4284779
2 127188924 intron variant T/C snv 0.13
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.700 1.000 1 2010 2010
dbSNP: rs4560059
rs4560059
2 127214652 intron variant T/C;G snv
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.700 1.000 1 2010 2010
dbSNP: rs4560059
rs4560059
2 127214652 intron variant T/C;G snv
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
0.700 1.000 1 2010 2010
dbSNP: rs4662710
rs4662710
2 127219241 intron variant C/G snv 0.40
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.700 1.000 1 2010 2010
dbSNP: rs4662710
rs4662710
2 127219241 intron variant C/G snv 0.40
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
0.700 1.000 1 2010 2010
dbSNP: rs7568070
rs7568070
2 127195478 synonymous variant A/C snv 0.26 0.32
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
0.700 1.000 1 2010 2010
dbSNP: rs7568070
rs7568070
2 127195478 synonymous variant A/C snv 0.26 0.32
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.700 1.000 1 2010 2010
dbSNP: rs7585314
rs7585314
2 127204917 intron variant T/A;C snv
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.700 1.000 1 2010 2010
dbSNP: rs7585314
rs7585314
2 127204917 intron variant T/A;C snv
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
0.700 1.000 1 2010 2010