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: rs112056543
rs112056543
RIMKLB
1 12 8698552 intron variant C/A snv 0.27 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: rs112875651
rs112875651 		7 8 125494452 intron variant G/A snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs112916054
rs112916054
MYO1D
1 17 32797244 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs113131010
rs113131010
BAZ1A
2 14 34772048 intron variant G/A snv 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs113267280
rs113267280
CCND3
1 6 41984773 intron variant T/G snv 7.3E-03 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: rs113542380
rs113542380
THADA
5 2 43237679 intron variant G/A snv 4.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs113809617
rs113809617
NDOR1 ; TMEM203
5 9 137205865 missense variant C/G snv 0.13 0.12 0.700 1.000 1 2016 2016
dbSNP: rs113993396
rs113993396
MIR4435-2HG
1 2 111359727 intron variant C/G snv 5.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs1143676
rs1143676
ITGA4
1 2 181530618 missense variant G/A snv 0.74 0.72 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: rs11526468
rs11526468
SEMA4D
1 9 89388764 missense variant C/T snv 0.27 0.22 0.700 1.000 1 2016 2016
dbSNP: rs115421711
rs115421711
ITGA1 ; PELO
1 5 52787392 intron variant A/G snv 2.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs11553699
rs11553699
RHOF ; TMEM120B
6 12 121779004 3 prime UTR variant A/G snv 9.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs11587735
rs11587735
TENT5C
1 1 117610389 intron variant A/C snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs116100695
rs116100695
PKLR
3 0.925 0.120 1 155291918 missense variant G/A snv 3.0E-03 2.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs11628569
rs11628569
RCOR1
1 14 102724025 intron variant A/G snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs11650665
rs11650665
LINC01993
1 17 78263766 non coding transcript exon variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs11672387
rs11672387
MAST1 ; HOOK2
3 19 12870439 intron variant C/G snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs11678584
rs11678584 		1 2 32338357 intergenic variant A/T snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs11678825
rs11678825
PPP1R21
1 2 48464072 intron variant C/T snv 8.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs11679564
rs11679564
STRN
1 2 36931241 intron variant G/T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs11686934
rs11686934 		1 2 69944984 downstream gene variant A/G snv 0.43 0.700 1.000 1 2016 2016