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: rs1802757
rs1802757
CASR
2 0.925 0.080 3 122286284 3 prime UTR variant C/T snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs1967327
rs1967327
PRKRA ; PJVK
2 0.925 0.080 2 178449632 intron variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs202011365
rs202011365
IL4 ; LOC105379176
2 0.925 0.080 5 132679748 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2099902
rs2099902
MBL2
2 0.925 0.080 10 52766089 3 prime UTR variant T/C snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs2243828
rs2243828
MPO
2 0.925 0.080 17 58281523 upstream gene variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2302313
rs2302313
EPX ; MKS1
2 0.925 0.080 17 58205665 3 prime UTR variant G/A snv 9.2E-02 8.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs2332897
rs2332897 		2 0.925 0.080 4 174465154 intergenic variant C/A;G snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs2470144
rs2470144
CYP19A1
2 0.925 0.080 15 51329528 intron variant T/C snv 0.60 0.010 1.000 1 2011 2011
dbSNP: rs283415
rs283415
ADH1B ; ADH1C
2 0.925 0.080 4 99349450 intron variant C/T snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs374400
rs374400
OBSCN
2 0.925 0.080 1 228347383 intron variant C/T snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs3744400
rs3744400
CLDN7 ; ELP5
2 0.925 0.080 17 7260404 synonymous variant A/C;G snv 4.1E-02; 8.0E-06; 4.0E-06 2.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs3804592
rs3804592
CASR
2 0.925 0.080 3 122260382 intron variant G/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs3811802
rs3811802
ADH1B
2 0.925 0.080 4 99323064 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs41395947
rs41395947
ABCC1
2 0.925 0.080 16 16007895 missense variant G/C snv 2.0E-05 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs4147536
rs4147536
ADH1B
2 0.925 0.080 4 99317955 non coding transcript exon variant A/C snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs41494447
rs41494447
ABCC1
2 0.925 0.080 16 16007985 missense variant C/T snv 4.4E-04 2.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs4548444
rs4548444
MAPKAPK2
2 0.925 0.080 1 206716793 intron variant A/G snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs4678174
rs4678174
CASR
2 0.925 0.080 3 122282024 intron variant C/T snv 0.56 0.010 1.000 1 2008 2008
dbSNP: rs4932178
rs4932178
FURIN
2 0.925 0.080 15 90868426 upstream gene variant C/T snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs587780669
rs587780669
MSH6 ; FBXO11
2 0.925 0.080 2 47798999 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs587782513
rs587782513
PMS2
2 0.925 0.080 7 5992023 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs680
rs680
IGF2 ; INS-IGF2
2 0.925 0.080 11 2132404 3 prime UTR variant T/C;G snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs6844282
rs6844282 		2 0.925 0.080 4 174460480 regulatory region variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs730881756
rs730881756
MSH2
2 0.925 0.080 2 47445653 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs754527029
rs754527029
EGFR ; LOC105375284
2 0.925 0.080 7 55019329 missense variant C/T snv 0.010 1.000 1 2015 2015