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: rs11048456
rs11048456
LOC105369705
6 1.000 0.080 12 26310149 intron variant C/T snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs11077998
rs11077998
FOXK2
1 17 82526070 intron variant G/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs11079018
rs11079018
KLHL11
1 17 41849398 3 prime UTR variant A/G snv 0.90 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: rs111932385
rs111932385
R3HDM4
1 19 906510 intron variant G/A snv 1.2E-02 0.700 1.000 1 2016 2016
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: rs11325774
rs11325774
EPRS1
1 1 220015795 intron variant AAA/-;A;AA;AAAA delins 0.64 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: rs11352199
rs11352199
DYNLL1
1 12 120482327 intron variant TT/-;T;TTT;TTTTTTTT;TTTTTTTTTTTTTT delins 0.42 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: 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: rs113809617
rs113809617
NDOR1 ; TMEM203
5 9 137205865 missense variant C/G snv 0.13 0.12 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: rs113993396
rs113993396
MIR4435-2HG
1 2 111359727 intron variant C/G snv 5.9E-02 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: rs1143676
rs1143676
ITGA4
1 2 181530618 missense variant G/A snv 0.74 0.72 0.700 1.000 1 2016 2016