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: rs11438927
rs11438927 		1 12 120746070 intron variant -/C ins 0.42 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: rs148280884
rs148280884
TRIM10
1 6 30159781 intron variant -/AT ins 2.7E-02 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: rs57675369
rs57675369 		1 5 95826714 upstream gene variant -/G ins 0.14 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: rs147133967
rs147133967
HSPA4
1 5 133091160 splice region variant TT/- del 5.6E-02 5.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs35971149
rs35971149
SBNO2 ; LOC102723798
1 19 1164199 intron variant T/- del 0.26 0.700 1.000 1 2016 2016
dbSNP: rs549579958
rs549579958
SPHK1
2 17 76387027 frameshift variant G/- del 1.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs58785784
rs58785784
SEMA4D
1 9 89416446 intron variant AT/- del 0.22 0.700 1.000 1 2016 2016
dbSNP: rs869167739
rs869167739
GMPR
2 6 16282288 intron variant G/- del 0.700 1.000 1 2016 2016
dbSNP: rs10587701
rs10587701
LINC00877
1 3 72238120 intron variant CT/- 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: rs10710459
rs10710459 		1 1 56467292 intron variant AAAAA/-;A;AA;AAA;AAAA;AAAAAA;AAAAAAA;AAAAAAAA delins 0.87 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: rs111326718
rs111326718
CNNM2
1 10 103011454 intron variant -/TAAAA delins 0.40 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: rs11325774
rs11325774
EPRS1
1 1 220015795 intron variant AAA/-;A;AA;AAAA delins 0.64 0.700 1.000 1 2016 2016
dbSNP: rs11352199
rs11352199
DYNLL1
1 12 120482327 intron variant TT/-;T;TTT;TTTTTTTT;TTTTTTTTTTTTTT delins 0.42 0.700 1.000 1 2016 2016
dbSNP: rs11356507
rs11356507
C18orf25
1 18 46236831 intron variant TTTT/-;TT;TTT;TTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs113635136
rs113635136
TFRC
3 3 196075973 intron variant AA/-;A;AAA;AAAA delins 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: rs11394256
rs11394256
MARCHF8
1 10 45461799 non coding transcript exon variant -/A delins 0.23 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: rs139300217
rs139300217
MARCHF8
1 10 45524767 intron variant -/TA delins 1.4E-02 0.700 1.000 1 2016 2016