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: rs7678287
rs7678287
SLC2A9 ; LOC105374476
2 1.000 0.080 4 9998877 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4215
rs4215
AZGP1
1 1.000 0.080 7 99971771 missense variant G/A;C snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs3816873
rs3816873
MTTP
9 0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26 0.010 1.000 1 2009 2009
dbSNP: rs516175
rs516175 		1 1.000 0.080 8 9912063 intergenic variant G/A snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs2002880
rs2002880
IGF1R
2 1.000 0.080 15 98960516 3 prime UTR variant G/A snv 3.6E-03 0.010 1.000 1 2018 2018
dbSNP: rs2229765
rs2229765
IGF1R
7 0.807 0.280 15 98934996 synonymous variant G/A snv 0.40 0.39 0.010 1.000 1 2018 2018
dbSNP: rs13278851
rs13278851 		1 1.000 0.080 8 9893362 intergenic variant G/A snv 8.6E-02 0.700 1.000 1 2010 2010
dbSNP: rs17150703
rs17150703 		2 1.000 0.080 8 9888288 intergenic variant G/A snv 8.5E-02 0.800 1.000 1 2010 2010
dbSNP: rs10418248
rs10418248
UBL5
1 1.000 0.080 19 9827538 intron variant T/A;C snv 0.010 < 0.001 1 2008 2008
dbSNP: rs746130183
rs746130183
TMEM131
1 1.000 0.080 2 97927485 missense variant A/G snv 8.8E-06 0.010 1.000 1 2019 2019
dbSNP: rs1057515576
rs1057515576
ARL6
9 0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins 0.700 0
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2018 2018
dbSNP: rs11109072
rs11109072
RMST
1 1.000 0.080 12 97507492 intron variant C/A snv 0.12 0.800 1.000 1 2013 2013
dbSNP: rs10783050
rs10783050 		1 1.000 0.080 1 96571527 intergenic variant T/C snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs765019354
rs765019354
PCSK1 ; LOC101929710
1 1.000 0.080 5 96429260 stop gained G/A;C snv 4.0E-06; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs750845408
rs750845408
PCSK1 ; LOC101929710
2 0.925 0.080 5 96423317 missense variant T/C snv 4.5E-05 7.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs6232
rs6232
PCSK1 ; LOC101929710
2 0.925 0.080 5 96416081 missense variant T/C snv 3.9E-02 3.2E-02 0.100 1.000 13 2006 2019
dbSNP: rs155971
rs155971
PCSK1 ; LOC101929710
1 1.000 0.080 5 96414692 intron variant T/C snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs6234
rs6234
PCSK1 ; LOC101929710
8 0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24 0.050 0.600 5 2008 2015
dbSNP: rs6235
rs6235
PCSK1 ; LOC101929710
8 0.925 0.120 5 96393194 missense variant C/G snv 0.26 0.23 0.100 0.700 10 2008 2015
dbSNP: rs7989336
rs7989336
HS6ST3
1 1.000 0.080 13 96365294 intron variant G/A snv 0.53 0.800 1.000 1 2013 2013
dbSNP: rs1352608657
rs1352608657
DNTT
1 1.000 0.080 10 96338169 missense variant A/G snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs1799722
rs1799722
BDKRB2
4 0.882 0.240 14 96204802 5 prime UTR variant C/T snv 0.41 0.39 0.010 1.000 1 2012 2012
dbSNP: rs757431022
rs757431022
SORBS1
3 0.925 0.120 10 95432529 missense variant G/A snv 1.4E-04 4.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs1165789592
rs1165789592
SORBS1
1 1.000 0.080 10 95432511 missense variant T/C snv 7.0E-06 0.010 1.000 1 2002 2002