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: rs2238732
rs2238732
PRODH
7 22 18927834 intron variant C/G;T snv 0.700 1.000 2 2015 2019
dbSNP: rs10083777
rs10083777
CENPN ; LOC107984858
2 16 81031677 intron variant C/T snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs10211524
rs10211524
LINC02245 ; LOC107984063
4 2 64980940 intron variant G/A snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs10265221
rs10265221
PRKAG2
3 7 151717243 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs10437868
rs10437868
NAV3
2 12 77508538 intron variant T/C snv 9.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs11766051
rs11766051
PSPHP1
2 7 55770852 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12297049
rs12297049
PAH
1 12 102857897 intron variant C/T snv 0.65 0.700 1.000 1 2015 2015
dbSNP: rs12586774
rs12586774
LINC02306
2 14 25660360 intron variant G/T snv 3.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs12671091
rs12671091
MRPS17
2 7 55950973 intron variant T/C snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs13244654
rs13244654
SUMF2
4 7 56079263 intron variant T/C snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs1440581
rs1440581
PPM1K-DT
4 1.000 0.080 4 88305270 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1718302
rs1718302
PAH
2 12 102878908 intron variant G/A snv 0.89 0.700 1.000 1 2019 2019
dbSNP: rs1718309
rs1718309
PAH
2 12 102848618 intron variant A/G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs172642
rs172642
SLC13A5 ; C17orf100 ; ALOX15P1
2 17 6692079 intron variant A/C snv 0.64 0.700 1.000 1 2016 2016
dbSNP: rs1744297
rs1744297
ASPG
12 14 104102135 intron variant T/C snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs1986734
rs1986734
SHROOM3
3 1.000 0.120 4 76499631 intron variant C/T snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs2169387
rs2169387
LOC157273
6 8 9323885 intron variant A/G snv 0.87 0.700 1.000 1 2016 2016
dbSNP: rs2242508
rs2242508
PHKG1
2 7 56083796 intron variant A/G snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs2540641
rs2540641
DGCR9 ; DGCR5
1 22 18972171 intron variant C/A snv 7.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs2731672
rs2731672
GRK6
6 5 177415473 intron variant T/C snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs2921604
rs2921604
ANKH
2 5 14867839 intron variant T/C snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs33984773
rs33984773
ATP5MPL ; TDRD9
2 14 103927429 intron variant G/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs35210477
rs35210477
PSPH
2 7 56044524 intron variant A/G snv 4.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs433755
rs433755
SEMA5A
2 5 9474834 intron variant A/C snv 0.53 0.700 1.000 1 2012 2012
dbSNP: rs4535700
rs4535700
NIPSNAP2
2 7 55977755 intron variant T/C snv 0.72 0.700 1.000 1 2019 2019