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: rs1569548274
rs1569548274
MECP2
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs11218544
rs11218544
MIR100HG
1 1.000 0.040 11 122168344 intron variant T/G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs12965607
rs12965607
MYO5B
1 1.000 0.040 18 49864655 intron variant T/G snv 1.0E-01 0.700 1.000 1 2016 2016
dbSNP: rs1635529
rs1635529
COL2A1
2 0.925 0.040 12 48001319 intron variant T/G snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs10034228
rs10034228 		3 0.882 0.040 4 111690594 intergenic variant T/C snv 0.32 0.020 1.000 2 2012 2019
dbSNP: rs634990
rs634990 		6 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 0.020 1.000 2 2012 2018
dbSNP: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs13129838
rs13129838
OR7E94P ; LINC00989 ; LOC107986294
1 1.000 0.040 4 79587634 non coding transcript exon variant T/C snv 0.66 0.700 1.000 1 2016 2016
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: 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: rs5742629
rs5742629
IGF1 ; LINC02456
1 1.000 0.040 12 102463485 non coding transcript exon variant T/C snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs748448196
rs748448196
ZNF644
1 1.000 0.040 1 90939337 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs9866391
rs9866391
PXYLP1 ; ZBTB38
2 1.000 0.040 3 141357242 intron variant T/C snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs1441937959
rs1441937959
EFL1
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs9747347
rs9747347
NPLOC4 ; TSPAN10
2 1.000 0.040 17 81639794 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10824518
rs10824518
KCNMA1
3 0.882 0.040 10 77303784 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1644731
rs1644731
RDH8
2 0.925 0.040 19 10021323 missense variant T/A;C snv 4.0E-06; 0.52 0.010 1.000 1 2010 2010
dbSNP: rs61754381
rs61754381
TYR ; LOC107984363
8 0.790 0.200 11 89227816 splice region variant T/A;C snv 9.5E-04; 8.0E-06 0.700 0
dbSNP: rs524952
rs524952 		6 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 0.710 1.000 2 2016 2019
dbSNP: rs10500355
rs10500355
RBFOX1
3 0.925 0.040 16 7409346 intron variant T/A 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: rs479445
rs479445
NFIA
1 1.000 0.040 1 60875960 intron variant T/A snv 0.31 0.700 1.000 1 2016 2016