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: rs218237
rs218237 		6 4 54528005 intergenic variant C/T snv 0.18 0.800 1.000 5 2009 2019
dbSNP: rs140522
rs140522
ODF3B
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.800 1.000 4 2009 2019
dbSNP: rs10168349
rs10168349
PRKCE
4 2 46133768 intron variant G/C snv 0.36 0.700 1.000 3 2016 2019
dbSNP: rs10224210
rs10224210
PRKAG2
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.800 1.000 3 2009 2019
dbSNP: rs1434282
rs1434282
LINC01221
6 1 199041592 non coding transcript exon variant C/T snv 0.76 0.700 1.000 3 2016 2019
dbSNP: rs1547247
rs1547247
HBS1L
5 6 135069698 intron variant G/A snv 0.22 0.800 1.000 3 2009 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 3 2009 2019
dbSNP: rs3809627
rs3809627
TBX6 ; YPEL3
5 16 30091839 5 prime UTR variant C/A snv 0.41 0.700 1.000 3 2016 2019
dbSNP: rs3811444
rs3811444
TRIM58
12 1 247876149 missense variant C/T snv 0.31 0.26 0.700 1.000 3 2012 2019
dbSNP: rs6592965
rs6592965
IKZF1
4 7 50360284 intron variant G/A snv 0.47 0.700 1.000 3 2016 2019
dbSNP: rs7385804
rs7385804
TFR2
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.700 1.000 3 2009 2019
dbSNP: rs9349205
rs9349205
CCND3
7 6 41957421 intron variant G/A;C snv 0.700 1.000 3 2016 2019
dbSNP: rs9573567
rs9573567
TBC1D4
2 13 75483247 upstream gene variant G/A snv 6.8E-02 0.700 1.000 3 2016 2019
dbSNP: rs10758656
rs10758656
RCL1
7 9 4852599 intron variant A/G snv 0.19 0.800 1.000 2 2009 2019
dbSNP: rs11072567
rs11072567
NRG4
5 15 76006403 intron variant A/G snv 0.43 0.700 1.000 2 2016 2019
dbSNP: rs115986297
rs115986297
GMDS
3 6 2050557 intron variant A/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs11628273
rs11628273
FNTB ; MAX ; CHURC1-FNTB ; MIR4706
2 14 65043160 intron variant C/T snv 0.57 0.800 1.000 2 2009 2019
dbSNP: rs1175550
rs1175550
SMIM1
5 1 3774964 intron variant A/G snv 0.31 0.700 1.000 2 2016 2019
dbSNP: rs117747069
rs117747069
NPRL3
4 16 120077 intron variant G/C snv 2.5E-02 0.700 1.000 2 2016 2019
dbSNP: rs1256061
rs1256061
ESR2
5 14 64236875 intron variant G/A;T snv 0.700 1.000 2 2016 2019
dbSNP: rs12903896
rs12903896 		1 15 74760154 downstream gene variant C/T snv 0.43 0.700 1.000 2 2016 2019
dbSNP: rs143593369
rs143593369 		1 7 100711557 downstream gene variant A/G snv 4.8E-03 0.700 1.000 2 2016 2019
dbSNP: rs151305716
rs151305716
ZNF217
3 20 53605567 intron variant C/T snv 8.1E-03 0.700 1.000 2 2016 2019
dbSNP: rs1569419
rs1569419
PRDM16
5 1 3080038 intron variant T/C snv 0.73 0.700 1.000 2 2016 2019
dbSNP: rs16929368
rs16929368
CACNA1C
1 12 2414606 intron variant T/A;C snv 0.700 1.000 2 2018 2019