Source: CURATED ×
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: rs1060499630
rs1060499630
FH
4 0.882 0.320 1 241513659 stop gained G/A snv 0.700 0
dbSNP: rs121913121
rs121913121
FH
6 0.851 0.320 1 241513661 missense variant T/G snv 0.700 0
dbSNP: rs2280543
rs2280543
BET1L
2 0.925 0.080 11 203788 3 prime UTR variant C/T snv 4.7E-02 0.830 1.000 1 2011 2018
dbSNP: rs12484776
rs12484776
TNRC6B
2 1.000 22 40256869 intron variant A/G snv 0.19 0.820 1.000 1 2011 2018
dbSNP: rs7913069
rs7913069
LOC102724351
2 1.000 10 103954641 intergenic variant C/T snv 7.0E-02 0.810 1.000 1 2011 2017
dbSNP: rs4247357
rs4247357
CCDC57
1 17 82209113 intron variant G/T snv 0.46 0.710 1.000 1 2012 2016
dbSNP: rs10069690
rs10069690
TERT
19 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs10508765
rs10508765 		2 1.000 10 31679855 intergenic variant A/G snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs10815466
rs10815466
KANK1
2 1.000 9 680714 intron variant G/A snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs10835889
rs10835889 		2 1.000 11 32348834 intergenic variant G/A snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs10929757
rs10929757
GREB1
2 1.000 2 11562535 missense variant A/C snv 0.54 0.44 0.700 1.000 1 2018 2018
dbSNP: rs10976689
rs10976689
LOC105375949
2 1.000 9 804886 intergenic variant A/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs11031006
rs11031006
LOC105376607
7 0.882 0.120 11 30204981 intron variant G/A snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs11031731
rs11031731 		3 0.925 0.040 11 32343884 upstream gene variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs11178393
rs11178393
PTPRR
2 1.000 12 70756878 intron variant T/C snv 8.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs11246001
rs11246001
RIC8A
2 1.000 11 210899 non coding transcript exon variant C/T snv 4.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs11246003
rs11246003
RIC8A
2 1.000 11 213723 non coding transcript exon variant T/G snv 4.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs116251328
rs116251328 		2 1.000 6 34209733 intergenic variant T/A snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs11987640
rs11987640
CSMD1
2 1.000 8 4584258 intron variant G/C snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs12037376
rs12037376
WNT4
3 0.925 0.040 1 22135618 intron variant G/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs12224688
rs12224688 		2 1.000 11 32305471 intron variant C/T snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs12392108
rs12392108 		2 1.000 X 132180234 intergenic variant T/A snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs12484951
rs12484951
TNRC6B
2 1.000 22 40307071 intron variant T/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs12638862
rs12638862 		10 0.827 0.160 3 169759718 downstream gene variant A/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs12640488
rs12640488
SULT1B1
2 1.000 4 69735020 intron variant A/G;T snv 0.700 1.000 1 2019 2019