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: rs10062079
rs10062079
C9 ; DAB2
1 5 39393631 intron variant G/A snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs10262995
rs10262995
BBS9
1 7 33510429 intron variant C/T snv 9.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs10459012
rs10459012 		1 11 55324098 upstream gene variant C/A snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs10518733
rs10518733
WDR72
1 15 53648110 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs10794486
rs10794486
IGF1R
1 15 98758306 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs111653425
rs111653425
SLC47A1 ; LOC105371578
1 17 19571562 missense variant C/T snv 6.4E-03 6.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs115151282
rs115151282
HLA-DQA1
1 6 32632634 intron variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs13317787
rs13317787
LMCD1-AS1
1 3 8100265 intron variant C/A snv 6.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs142093111
rs142093111
LRP2
1 2 169188258 missense variant G/A snv 1.7E-04 2.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs143933372
rs143933372
PSORS1C1
1 6 31131462 intron variant T/C snv 2.5E-03 0.700 1.000 1 2018 2018
dbSNP: rs16972495
rs16972495
CEMIP
1 15 80856398 intron variant A/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs17001974
rs17001974
MRTFA
1 22 40481380 intron variant C/T snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs17257827
rs17257827
LOC105379011
1 5 68519186 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs2511162
rs2511162
GAB2 ; USP35
1 11 78216055 3 prime UTR variant A/G snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs2762943
rs2762943
CYP24A1
1 20 54174247 upstream gene variant T/G snv 0.94 0.700 1.000 1 2019 2019
dbSNP: rs2789047
rs2789047 		1 6 120868656 intergenic variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs34400381
rs34400381
SLC25A45
1 11 65376421 missense variant G/A snv 2.6E-02 2.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs35925637
rs35925637
LOC101928278
1 2 216811905 intron variant T/A snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs35985639
rs35985639
TFEB
1 6 41705842 5 prime UTR variant G/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs4237268
rs4237268
PIP5K1B
1 9 68843260 non coding transcript exon variant G/A snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs5030873
rs5030873
SLC34A1
1 5 177388123 synonymous variant T/C snv 0.29 0.25 0.700 1.000 1 2019 2019
dbSNP: rs548873184
rs548873184
LINC00626
1 1 168785175 intron variant G/A;T snv 1.3E-04 0.700 1.000 1 2017 2017
dbSNP: rs573421908
rs573421908
SLC35F3
1 1 234284757 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs6060139
rs6060139
MYH7B
1 20 34978696 intron variant T/C snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs62071306
rs62071306
TBX2 ; TBX2-AS1
1 17 61398705 intron variant A/C snv 0.19 0.700 1.000 1 2019 2019