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: rs17400325
rs17400325
PDE11A ; PDE11A-AS1
2 1.000 0.040 2 177701185 missense variant T/C snv 3.2E-02 2.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs17428076
rs17428076
SLC25A12
1 1.000 0.040 2 171987022 intron variant C/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs1793639
rs1793639
NTM
1 1.000 0.040 11 132061637 intron variant G/A snv 0.39 0.700 1.000 1 2016 2016
dbSNP: rs201140091
rs201140091
FRMPD2
1 1.000 0.040 10 48200198 intron variant A/-;AAAAA;AAAAAA;AAAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAAA;AAAAAAAAAAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs2155413
rs2155413
DLG2
1 1.000 0.040 11 84923746 intron variant C/A snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs2181346
rs2181346
LOC105370507
1 1.000 0.040 14 54085710 regulatory region variant A/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs2207136
rs2207136
TFAP2B
1 1.000 0.040 6 50842007 intron variant T/C snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs2342406
rs2342406
LINC01833
1 1.000 0.040 2 44925609 intron variant T/C snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs2799081
rs2799081
PGBD1
1 1.000 0.040 6 28302807 downstream gene variant T/C snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs2808510
rs2808510
LINC00862
1 1.000 0.040 1 200366947 non coding transcript exon variant C/T snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs2908972
rs2908972
SHISA6
1 1.000 0.040 17 11503942 intron variant T/A snv 0.39 0.700 1.000 1 2016 2016
dbSNP: rs297589
rs297589
GPD2
1 1.000 0.040 2 156502238 intron variant T/A snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs3138141
rs3138141
RDH5 ; BLOC1S1-RDH5
5 0.827 0.040 12 55721994 3 prime UTR variant C/A snv 0.19 0.16 0.700 1.000 1 2016 2016
dbSNP: rs34016308
rs34016308
CPSF2
1 1.000 0.040 14 92149397 intron variant -/TA delins 0.19 0.700 1.000 1 2016 2016
dbSNP: rs34217772
rs34217772
LRFN5
1 1.000 0.040 14 41804367 intron variant C/G snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs479445
rs479445
NFIA
1 1.000 0.040 1 60875960 intron variant T/A snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs4948523
rs4948523
BICC1
1 1.000 0.040 10 58579338 intron variant A/C snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs5022942
rs5022942
BMP3
1 1.000 0.040 4 81038812 intron variant A/G snv 0.59 0.700 1.000 1 2016 2016
dbSNP: rs5442
rs5442
GNB3 ; CDCA3
2 0.925 0.120 12 6845700 missense variant G/A snv 4.8E-02 4.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs56299331
rs56299331
TCF7L2
1 1.000 0.040 10 113028677 intron variant C/T snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs61049169
rs61049169 		1 1.000 0.040 2 146131140 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs71041628
rs71041628
GRIA4
1 1.000 0.040 11 105794433 intron variant GTGTGTGTGT/-;GTGT;GTGTGT;GTGTGTGT;GTGTGTGTGTGT delins 0.67 0.700 1.000 1 2016 2016
dbSNP: rs7162310
rs7162310
APH1B
1 1.000 0.040 15 63279035 intron variant C/T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs73157695
rs73157695 		1 1.000 0.040 21 45952033 intergenic variant G/A snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs7968679
rs7968679
PZP ; KLRG1
1 1.000 0.040 12 9160708 intron variant A/C;G snv 0.700 1.000 1 2016 2016