Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs202247814
rs202247814
PCCA
2 1.000 0.080 13 100155090 missense variant G/A snv 0.820 1.000 6 1999 2014
dbSNP: rs202247822
rs202247822
PCCB
1 1.000 0.080 3 136329962 missense variant T/C snv 4.0E-06 7.0E-06 0.810 1.000 10 1990 2005
dbSNP: rs202247823
rs202247823
PCCB
1 1.000 0.080 3 136330012 missense variant A/G snv 2.0E-05 1.6E-04 0.800 1.000 17 1990 2016
dbSNP: rs879253815
rs879253815
PCCB
1 1.000 0.080 3 136262015 missense variant C/T snv 5.9E-06 1.4E-05 0.800 1.000 14 1990 2016
dbSNP: rs121964959
rs121964959
PCCB
1 1.000 0.080 3 136327184 missense variant C/A;T snv 2.8E-05 0.800 1.000 13 1990 2012
dbSNP: rs186710233
rs186710233
PCCB
1 1.000 0.080 3 136329940 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.800 1.000 12 1990 2012
dbSNP: rs111033542
rs111033542
PCCB
1 1.000 0.080 3 136327239 missense variant C/T snv 2.4E-05 7.0E-06 0.800 1.000 11 1990 2005
dbSNP: rs121964960
rs121964960
PCCB
1 1.000 0.080 3 136262024 missense variant G/A snv 6.0E-06 7.0E-06 0.800 1.000 11 1990 2005
dbSNP: rs121964961
rs121964961
PCCB
1 1.000 0.080 3 136327638 missense variant A/G;T snv 6.4E-05; 4.0E-06 0.800 1.000 10 1990 2014
dbSNP: rs141371306
rs141371306
PCCA
1 1.000 0.080 13 100111886 missense variant C/T snv 2.0E-05 5.6E-05 0.800 1.000 9 1999 2014
dbSNP: rs202247818
rs202247818
PCCB
1 1.000 0.080 3 136256586 missense variant G/A snv 0.800 1.000 9 1990 2005
dbSNP: rs202247819
rs202247819
PCCB
1 1.000 0.080 3 136261979 missense variant G/C snv 0.800 1.000 9 1990 2005
dbSNP: rs771438170
rs771438170
PCCA
1 1.000 0.080 13 100515529 missense variant G/A snv 1.2E-05 0.800 1.000 8 1999 2016
dbSNP: rs1443858896
rs1443858896
PCCA
1 1.000 0.080 13 100302982 missense variant C/T snv 8.0E-06 0.800 1.000 6 1999 2012
dbSNP: rs121964958
rs121964958
PCCA
1 1.000 0.080 13 100301512 missense variant T/A snv 4.0E-06 7.0E-06 0.800 1.000 4 1999 2004
dbSNP: rs202247815
rs202247815
PCCA
1 1.000 0.080 13 100209354 missense variant T/C snv 4.0E-06 0.800 1.000 4 1999 2004
dbSNP: rs778742647
rs778742647
PCCB
1 1.000 0.080 3 136327185 missense variant G/A snv 3.2E-05 3.5E-05 0.710 1.000 8 1993 2014
dbSNP: rs1553774114
rs1553774114
PCCB
1 1.000 0.080 3 136256570 missense variant G/A snv 0.700 1.000 9 1990 2005
dbSNP: rs762354873
rs762354873
PCCB
1 1.000 0.080 3 136283886 missense variant G/A snv 4.0E-06 0.700 1.000 9 1990 2005
dbSNP: rs374722096
rs374722096
PCCB
1 1.000 0.080 3 136293784 missense variant C/T snv 4.8E-05 4.9E-05 0.700 1.000 6 1994 2018
dbSNP: rs573607437
rs573607437
PCCA
1 1.000 0.080 13 100273198 frameshift variant T/-;TT delins 0.700 1.000 6 2003 2018
dbSNP: rs1304714042
rs1304714042
PCCB
1 1.000 0.080 3 136262016 missense variant G/A snv 5.9E-06 0.700 1.000 5 1993 2010
dbSNP: rs202247820
rs202247820
PCCB
1 1.000 0.080 3 136328854 stop gained C/T snv 4.0E-06 7.0E-06 0.700 1.000 5 1993 2017
dbSNP: rs587776758
rs587776758
PCCB
1 1.000 0.080 3 136326882 frameshift variant TT/-;TTT delins 0.700 1.000 5 1998 2015
dbSNP: rs746102997
rs746102997
PCCB
1 1.000 0.080 3 136283855 missense variant G/A snv 4.0E-06 2.8E-05 0.700 1.000 5 2003 2017