Source: GWASDB

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: rs710446
rs710446
KNG1
0.925 0.120 3 186742138 missense variant T/C snv 0.42 0.44
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.800 1.000 3 2010 2013
dbSNP: rs9898
rs9898
HRG ; LOC105374258
0.925 0.160 3 186672838 missense variant C/T snv 0.38 0.43
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.800 1.000 3 2010 2013
dbSNP: rs2545801
rs2545801
GRK6
5 177414338 intron variant T/C snv 0.56
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.800 1.000 2 2012 2013
dbSNP: rs1593
rs1593
F11
4 186274397 3 prime UTR variant T/A;G snv
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.800 1.000 1 2012 2012
dbSNP: rs1801020
rs1801020
F12 ; GRK6 ; SLC34A1
1.000 0.040 5 177409531 5 prime UTR variant A/G snv 0.65 0.67
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.800 1.000 1 2013 2018
dbSNP: rs2050190
rs2050190
TSBP1 ; TSBP1-AS1
1.000 0.120 6 32371299 intron variant A/G snv 0.35
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.800 1.000 1 2012 2012
dbSNP: rs2289252
rs2289252
F11 ; F11-AS1
1.000 0.040 4 186286227 non coding transcript exon variant C/T snv 0.35
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.800 1.000 1 2012 2012
dbSNP: rs2469184
rs2469184
AGBL1
15 86648746 intron variant A/G snv 0.54
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.800 1.000 1 2012 2012
dbSNP: rs2731672
rs2731672
GRK6
5 177415473 intron variant T/C snv 0.66
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.800 1.000 1 2010 2010
dbSNP: rs6028
rs6028
F5
1 169582444 synonymous variant T/C snv 0.29 0.23
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.800 1.000 1 2012 2012
dbSNP: rs687621
rs687621
ABO
0.851 0.240 9 133261662 intron variant G/A;C snv
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.800 1.000 1 2012 2012
dbSNP: rs1042445
rs1042445
HRG ; LOC105374258
3 186677647 missense variant C/A;T snv 0.27
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs13177732
rs13177732
GRK6
5 177429924 intron variant T/G snv 0.16
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1621816
rs1621816
KNG1
3 186721384 non coding transcript exon variant T/C snv 0.32
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1624230
rs1624230
KNG1
3 186721146 intron variant C/A snv 0.42
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1624569
rs1624569
KNG1
3 186732280 intron variant T/C snv 0.38
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs16860992
rs16860992
HRG ; LOC105374258
1.000 0.080 3 186676249 intron variant G/C;T snv
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs17876032
rs17876032
F12 ; GRK6 ; SLC34A1
5 177403626 non coding transcript exon variant G/A;C;T snv 0.52; 6.2E-04; 1.8E-04
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2062632
rs2062632
KNG1
3 186743392 3 prime UTR variant T/C snv 0.19
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2228243
rs2228243
HRG ; LOC105374258
1.000 0.080 3 186677324 missense variant A/G;T snv 0.20; 4.0E-06
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2287694
rs2287694
GRK6
5 177433292 intron variant T/C snv 8.5E-02
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2304595
rs2304595
KLKB1
1.000 0.040 4 186251126 non coding transcript exon variant G/A snv 0.36
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs266723
rs266723
KNG1
3 186729258 intron variant A/C snv 0.44
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3856930
rs3856930
KNG1
3 186740533 intron variant C/T snv 0.27
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs4253304
rs4253304
KLKB1
4 186252417 intron variant G/C snv 0.36
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013