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: rs1861612
rs1861612
DNER
1 1.000 0.080 2 229657682 intron variant G/A;C snv 0.810 1.000 2 2014 2015
dbSNP: rs1882095
rs1882095 		1 1.000 0.080 7 129757804 downstream gene variant T/C snv 0.59 0.020 1.000 2 2008 2011
dbSNP: rs200185429
rs200185429
SLC30A8 ; LOC105375716
1 1.000 0.080 8 117153084 stop gained C/T snv 2.4E-04 9.8E-05 0.020 1.000 2 2014 2019
dbSNP: rs2021785
rs2021785
PCSK2
1 1.000 0.080 20 17441418 intron variant T/A;C snv 0.020 1.000 2 2007 2012
dbSNP: rs2074314
rs2074314
KCNJ11
1 1.000 0.080 11 17390274 upstream gene variant C/T snv 0.72 0.800 1.000 2 2011 2019
dbSNP: rs2191348
rs2191348 		1 1.000 0.080 7 15024630 intergenic variant G/T snv 0.54 0.800 1.000 2 2011 2018
dbSNP: rs2229621
rs2229621
HK2
1 1.000 0.080 2 74872350 missense variant A/T snv 0.18 0.19 0.020 1.000 2 1995 1996
dbSNP: rs2292334
rs2292334
SLC22A3
1 1.000 0.080 6 160437156 synonymous variant G/A;C snv 0.36; 8.0E-06 0.020 1.000 2 2017 2017
dbSNP: rs2328531
rs2328531
CDKAL1
1 1.000 0.080 6 20643521 intron variant A/G;T snv 0.700 1.000 2 2010 2011
dbSNP: rs2328548
rs2328548
CDKAL1
1 1.000 0.080 6 20716727 intron variant G/A;T snv 0.700 1.000 2 2011 2012
dbSNP: rs2334499
rs2334499 		1 1.000 0.080 11 1675619 intergenic variant C/T snv 0.34 0.020 1.000 2 2009 2013
dbSNP: rs234853
rs234853
KCNQ1
1 1.000 0.080 11 2829598 intron variant G/A snv 0.66 0.700 1.000 2 2010 2011
dbSNP: rs243019
rs243019 		1 1.000 0.080 2 60358671 intron variant T/A;C snv 0.46 0.800 1.000 2 2012 2018
dbSNP: rs2746342
rs2746342
PRKAA2
1 1.000 0.080 1 56670576 intron variant G/A;T snv 0.020 1.000 2 2017 2018
dbSNP: rs28549760
rs28549760
BTC
1 1.000 0.080 4 74794307 missense variant A/C snv 0.19 0.25 0.020 1.000 2 2005 2006
dbSNP: rs3014866
rs3014866
S100A9
1 1.000 0.080 1 153356595 upstream gene variant T/A;C snv 0.020 1.000 2 2013 2016
dbSNP: rs348330
rs348330
ABCB10
1 1.000 0.080 1 229537208 intron variant G/A snv 0.47 0.700 1.000 2 2018 2019
dbSNP: rs367543060
rs367543060
GLP1R
1 1.000 0.080 6 39066240 missense variant C/T snv 8.0E-06 7.0E-06 0.020 0.500 2 2005 2017
dbSNP: rs41270082
rs41270082
CLPS
1 1.000 0.080 6 35795160 missense variant G/A;C;T snv 8.5E-03; 4.0E-06 0.020 1.000 2 2005 2013
dbSNP: rs56337234
rs56337234 		1 1.000 0.080 4 1782676 regulatory region variant C/T snv 0.43 0.700 1.000 2 2019 2019
dbSNP: rs58432198
rs58432198
FAF1
1 1.000 0.080 1 50790419 intron variant C/T snv 8.3E-02 0.700 1.000 2 2019 2019
dbSNP: rs6467136
rs6467136
LOC105375490
1 1.000 0.080 7 127524904 intergenic variant A/G;T snv 0.800 1.000 2 2011 2013
dbSNP: rs6723108
rs6723108
TMEM163 ; LOC105373629
1 1.000 0.080 2 134722410 non coding transcript exon variant G/T snv 0.72 0.820 1.000 2 2013 2015
dbSNP: rs6792370
rs6792370
UBE2E2
1 1.000 0.080 3 23248401 intron variant C/T snv 0.17 0.700 1.000 2 2010 2011
dbSNP: rs6878122
rs6878122
ZBED3-AS1
1 1.000 0.080 5 77131486 intron variant G/A snv 0.76 0.800 1.000 2 2012 2018