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: rs138584487
rs138584487
LARGE1
1 22 33416876 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs116009877
rs116009877 		4 6 25715429 regulatory region variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs116112266
rs116112266
LINC01885
1 2 107482651 intron variant G/C snv 3.5E-03 0.700 1.000 1 2017 2017
dbSNP: rs140911738
rs140911738
MAPRE1
1 20 32849813 3 prime UTR variant G/C snv 9.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs57620710
rs57620710
LINC02331 ; LOC105370504
1 14 53694373 intron variant GGAGGT/- delins 0.78 0.700 1.000 1 2017 2017
dbSNP: rs181143083
rs181143083
ZDHHC14
2 6 157434218 intron variant T/A snv 7.5E-04 0.700 1.000 1 2017 2017
dbSNP: rs3013795
rs3013795
ANTXRL
1 10 46313639 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs4642515
rs4642515
HLA-DQB1
1 6 32664039 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs150548770
rs150548770
ESM1 ; LOC102467081
2 5 55020802 intron variant T/C snv 5.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs17052130
rs17052130
SPRY3
1 X 155675419 intergenic variant T/C snv 4.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs8177240
rs8177240
TF
5 3 133758857 intron variant T/C;G snv 0.29 0.700 1.000 1 2014 2014