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: rs104893706
rs104893706
CASR
4 0.851 0.240 3 122284482 missense variant C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs104893708
rs104893708
CASR
4 0.851 0.160 3 122257269 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs104893710
rs104893710
CASR
5 0.851 0.200 3 122284413 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs137929307
rs137929307
LDLR
12 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.010 1.000 1 2010 2010
dbSNP: rs1394440820
rs1394440820
CASR
1 1.000 0.040 3 122284484 missense variant G/A snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1442384172
rs1442384172
PCSK9
1 1.000 0.040 1 55046638 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs144467873
rs144467873
APOB
9 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.010 1.000 1 2007 2007
dbSNP: rs1482119762
rs1482119762
CASR
4 0.851 0.200 3 122261693 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs28942111
rs28942111
PCSK9
7 0.807 0.120 1 55044016 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs368278927
rs368278927
APOB
1 1.000 0.040 2 21006168 missense variant G/A snv 7.2E-05 9.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs369067856
rs369067856
PCSK9
2 0.925 0.080 1 55043945 missense variant C/A;T snv 3.2E-05 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs397514728
rs397514728
CASR
4 0.851 0.160 3 122261697 missense variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs397514729
rs397514729
CASR
3 0.882 0.120 3 122254274 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs5742904
rs5742904
APOB
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 2010 2010
dbSNP: rs775988212
rs775988212
PCSK9
2 0.925 0.080 1 55043976 missense variant T/C snv 1.2E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs879254464
rs879254464
LDLR
3 0.882 0.120 19 11102783 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs965814
rs965814
ADCY8 ; LOC105375761 ; LOC105375762
1 1.000 0.040 8 130882637 intron variant G/A snv 0.46 0.010 1.000 1 2011 2011