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: rs10223451
rs10223451 		2 6 139630553 intron variant A/G snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs10424619
rs10424619
USF2
2 19 35277334 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10815095
rs10815095
RCL1 ; MIR101-2
4 9 4848297 intron variant A/G snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs11122449
rs11122449
GALNT2
2 1 230164735 intron variant C/G;T snv 0.56 0.700 1.000 1 2016 2016
dbSNP: rs111527163
rs111527163 		2 4 68732288 intergenic variant A/T snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs11187938
rs11187938
TBC1D12
2 10 94423594 intron variant T/C snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs112176573
rs112176573
HBE1 ; HBG2
2 11 5276199 intron variant G/A snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs11227229
rs11227229
EHBP1L1
2 11 65586679 intron variant G/A snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs1145949
rs1145949
PAPLN
2 14 73239461 intron variant T/G snv 8.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs1155998
rs1155998 		2 8 97639920 upstream gene variant C/A snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs11641118
rs11641118
LUC7L
2 16 219907 intron variant A/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs11818463
rs11818463
PRTFDC1
2 10 24934438 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs11853189
rs11853189
DNAJA4 ; LOC105370910
2 15 78273478 intron variant C/T snv 8.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs12137294
rs12137294 		2 1 205213744 upstream gene variant A/C snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs12413816
rs12413816
FRMD4A ; LOC105376426
2 10 13715765 intron variant G/T snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs1292048
rs1292048
TUBD1
2 17 59877710 intron variant A/G snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs12940626
rs12940626
PRKAR1A ; ARSG ; WIPI1
2 17 68432290 intron variant C/T snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs12972345
rs12972345
KANK2
2 19 11182144 intron variant A/G snv 1.0E-01 0.700 1.000 1 2016 2016
dbSNP: rs131213
rs131213 		2 22 31357863 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs131801
rs131801
TYMP ; SCO2
2 22 50528205 non coding transcript exon variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1318638
rs1318638
TRIM10
3 6 30160096 intron variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs138665726
rs138665726
UBE2L3
3 22 21563570 intron variant A/C snv 0.17 0.700 1.000 1 2016 2016
dbSNP: rs138692864
rs138692864
LOC643327
2 6 3466533 regulatory region variant T/A snv 3.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs139178017
rs139178017
TFR2
2 7 100628224 splice region variant C/T snv 3.1E-03 2.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs141839244
rs141839244
SLC12A7
2 5 1085619 intron variant C/T snv 8.9E-03 0.700 1.000 1 2016 2016