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: rs10083830
rs10083830
SPECC1
1 17 20062570 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs10211774
rs10211774
SMOX
1 20 4172971 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10449752
rs10449752 		1 1 56152275 intron variant T/A;G snv 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: rs10716631
rs10716631
PNKD
1 2 218273447 intron variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs10769966
rs10769966
DENND2B
1 11 8825494 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10897473
rs10897473
FLRT1 ; MACROD1
1 11 64085244 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11021221
rs11021221 		4 11 95575690 intron variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs112062732
rs112062732 		1 6 32486159 intergenic variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1128249
rs1128249
COBLL1
10 1.000 0.080 2 164672114 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs113525195
rs113525195
PSMB5
2 14 23030112 intron variant C/A;T snv 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: rs11429307
rs11429307
C5orf67
1 5 56561198 intron variant -/T;TT delins 0.700 1.000 1 2016 2016
dbSNP: rs1151786
rs1151786
TMCC2
1 1 205258632 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs117064827
rs117064827
DNMT1 ; S1PR2
1 19 10224049 missense variant A/G;T snv 7.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs11771301
rs11771301
WIPI2
2 7 5195031 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12454712
rs12454712
BCL2
9 0.925 0.120 18 63178651 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs12621445
rs12621445
UBXN2A
1 2 23932094 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1357529
rs1357529
PLS1 ; LOC105374136
2 3 142632255 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs140522
rs140522
ODF3B
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs145224266
rs145224266
ANGPT1
1 8 107388433 intron variant TAAATAAA/-;TAAA;TAAATAAATAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs145589976
rs145589976
RGL1
1 1 183878145 intron variant TTCTTTCT/-;TTCT;TTCTTTCTTTCT delins 0.700 1.000 1 2016 2016