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: rs11394256
rs11394256
MARCHF8
1 10 45461799 non coding transcript exon variant -/A delins 0.23 0.700 1.000 1 2016 2016
dbSNP: rs35762459
rs35762459
DENND2B
1 11 8823106 intron variant -/A delins 0.46 0.700 1.000 1 2016 2016
dbSNP: rs36064799
rs36064799
SLFN14 ; LOC107985033
1 17 35553480 non coding transcript exon variant -/A delins 4.5E-02 7.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs5781151
rs5781151
SLC30A10
1 1 219912854 intron variant -/A;AA delins 0.700 1.000 1 2016 2016
dbSNP: rs3053386
rs3053386
GMDS-DT
1 6 2488103 intron variant -/AA delins 0.700 1.000 1 2016 2016
dbSNP: rs10649609
rs10649609
COBLL1
1 2 164696196 non coding transcript exon variant -/AATAA;AGTAA delins 0.700 1.000 1 2016 2016
dbSNP: rs140297755
rs140297755
LOC105376087
1 9 74364686 intergenic variant -/ACA delins 0.31 0.700 1.000 1 2016 2016
dbSNP: rs148280884
rs148280884
TRIM10
1 6 30159781 intron variant -/AT ins 2.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs11438927
rs11438927 		1 12 120746070 intron variant -/C ins 0.42 0.700 1.000 1 2016 2016
dbSNP: rs57675369
rs57675369 		1 5 95826714 upstream gene variant -/G ins 0.14 0.700 1.000 1 2016 2016
dbSNP: rs147324647
rs147324647
STX7
1 6 132499140 intron variant -/GT;T ins 0.700 1.000 1 2016 2016
dbSNP: rs113700287
rs113700287
THRB
4 3 24293020 intron variant -/GTT delins 0.700 1.000 1 2016 2016
dbSNP: rs34978289
rs34978289
GMDS-DT
1 6 2504388 intron variant -/T ins 0.53 0.700 1.000 1 2016 2016
dbSNP: rs35237755
rs35237755
TRIM58
1 1 247868934 intron variant -/T delins 1.0E-01 0.700 1.000 1 2016 2016
dbSNP: rs11429307
rs11429307
C5orf67
1 5 56561198 intron variant -/T;TT delins 0.700 1.000 1 2016 2016
dbSNP: rs397778518
rs397778518
FNDC3B
1 3 172081346 intron variant -/T;TT delins 0.49 0.700 1.000 1 2016 2016
dbSNP: rs68021656
rs68021656
BCL2L11 ; MIR4435-2HG
1 2 111165509 3 prime UTR variant -/T;TT delins 0.700 1.000 1 2016 2016
dbSNP: rs139300217
rs139300217
MARCHF8
1 10 45524767 intron variant -/TA delins 1.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs397826789
rs397826789
PITHD1
1 1 23783400 intron variant -/TA;TACACACATATATGTGTATATATACATATATACACATATATATA;TACACATATATATGCGTATATATACATATATACGCATATATATA;TACACATATATGTGTATATATACATATATACGCATATATATA;TATA delins 0.63 0.700 1.000 1 2016 2016
dbSNP: rs111326718
rs111326718
CNNM2
1 10 103011454 intron variant -/TAAAA delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs71378803
rs71378803 		1 2 86779042 downstream gene variant -/TC delins 0.62 0.700 1.000 1 2016 2016
dbSNP: rs111373852
rs111373852 		1 6 6679939 downstream gene variant -/TTAG delins 0.54 0.700 1.000 1 2016 2016
dbSNP: rs141119689
rs141119689
PKLR
1 1 155301643 upstream gene variant A/- del 4.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs10716881
rs10716881
ATP5F1B ; SNORD59B
1 12 56644387 intron variant A/-;AA delins 0.42 0.700 1.000 1 2016 2016
dbSNP: rs34756862
rs34756862 		1 9 34057211 intergenic variant A/-;AA delins 0.700 1.000 1 2016 2016