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: rs12741980
rs12741980 		2 1 11879536 non coding transcript exon variant A/C snv 5.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs1330225
rs1330225 		3 1 106293321 intergenic variant T/C snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs13306556
rs13306556
MTHFR
2 1 11792053 intron variant C/T snv 0.10 0.700 1.000 1 2018 2018
dbSNP: rs13796
rs13796
HAX1
1 1 154273441 synonymous variant T/C snv 0.12 9.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs137976953
rs137976953
C1orf167
1 1 11782952 intron variant T/- del 1.0E-01 0.700 1.000 1 2019 2019
dbSNP: rs149764880
rs149764880
CLCN6
3 1 11820674 non coding transcript exon variant G/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs150816167
rs150816167
TDRD5
1 1 179602727 intron variant T/C snv 3.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs1565716
rs1565716
MECR
1 1 29222704 intron variant G/A snv 7.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs1620668
rs1620668
WNT2B
2 1 112481358 intron variant A/G snv 0.17 0.700 1.000 1 2016 2016
dbSNP: rs16853958
rs16853958
LOC105371692
2 1 204559216 downstream gene variant A/C snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs17035646
rs17035646
CASZ1
6 1 10736490 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs17037390
rs17037390
MTHFR
3 1.000 0.040 1 11800786 non coding transcript exon variant G/A snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs17046596
rs17046596
GPATCH2
1 1 217549107 intron variant A/C snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs182662555
rs182662555 		1 1 95823780 intergenic variant T/C snv 2.5E-04 0.700 1.000 1 2018 2018
dbSNP: rs1886914
rs1886914 		1 1 118998829 downstream gene variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1915872
rs1915872
RGS7
1 1 241198493 intron variant G/A snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs202071545
rs202071545
CLCN6
2 1 11818105 intron variant AAAA/-;AAA;AAAAA;AAAAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs2065152
rs2065152
LRRC8C ; LOC101927952
1 1 89762960 non coding transcript exon variant C/T snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs2171690
rs2171690
PBX1 ; PBX1-AS1
1 1 164770862 non coding transcript exon variant T/C snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs2493134
rs2493134
AGT
4 1 230713613 intron variant T/C snv 0.57 0.700 1.000 1 2016 2016
dbSNP: rs2493141
rs2493141
LOC105373166
3 1 230729374 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2493292
rs2493292
PRDM16
2 1 3412095 missense variant C/T snv 0.12; 4.4E-06 0.14 0.700 1.000 1 2016 2016
dbSNP: rs2629665
rs2629665
PFKFB2 ; YOD1
2 1 207047455 3 prime UTR variant C/A snv 0.47 0.700 1.000 1 2018 2018
dbSNP: rs2760061
rs2760061 		3 1 228003374 upstream gene variant T/A snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs2990220
rs2990220
GBAP1
3 1 155220463 intron variant T/A;C;G snv 0.700 1.000 1 2018 2018