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: rs12148477
rs12148477
GLDN
1 15 51360922 intron variant A/G snv 0.27 0.800 1.000 1 2013 2013
dbSNP: rs12895389
rs12895389
SYNE3
1 14 95425937 intron variant G/A snv 0.13 0.800 1.000 1 2013 2013
dbSNP: rs2414095
rs2414095
CYP19A1 ; MIR4713HG
4 15 51232095 intron variant A/G snv 0.69 0.800 1.000 1 2013 2013
dbSNP: rs3764618
rs3764618
GYS1 ; RUVBL2
1 19 48993898 5 prime UTR variant A/G;T snv 9.0E-02 0.800 1.000 1 2013 2013
dbSNP: rs11031005
rs11031005
LOC105376607
5 1.000 0.120 11 30204809 intron variant T/C snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs11078697
rs11078697
SENP3 ; SENP3-EIF4A1
1 17 7565912 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs112137861
rs112137861
SOX5
2 1.000 0.120 12 23857104 intron variant C/A snv 3.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs12294104
rs12294104
LOC102723403
4 11 30361352 intergenic variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs140485756
rs140485756 		2 1.000 0.120 6 69410439 intergenic variant T/C snv 3.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs2075230
rs2075230
MPDU1 ; LOC100996842
3 17 7583790 5 prime UTR variant A/C;G snv 4.0E-06; 0.19 0.700 1.000 1 2013 2013
dbSNP: rs2445762
rs2445762
CYP19A1
4 1.000 0.080 15 51325511 intron variant T/C snv 0.31 0.700 1.000 1 2013 2013
dbSNP: rs4321386
rs4321386
IL1R2
2 2 101996551 intron variant C/G snv 0.12 0.700 1.000 1 2013 2013