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: rs9487023
rs9487023
CCDC162P
8 6 109268801 intron variant A/G snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs9487051
rs9487051
CCDC162P
1 6 109295876 intron variant A/G snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs9374081
rs9374081
CCDC162P
2 6 109310579 intron variant A/G snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs754205
rs754205
IRS2
4 13 109759295 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs7692976
rs7692976
EGF
2 1.000 0.040 4 109990411 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12210538
rs12210538
SLC22A16
3 1.000 0.040 6 110438805 missense variant A/G snv 0.17 0.16 0.700 1.000 1 2016 2016
dbSNP: rs68021656
rs68021656
BCL2L11 ; MIR4435-2HG
1 2 111165509 3 prime UTR variant -/T;TT delins 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: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs4766578
rs4766578
ATXN2
8 0.851 0.200 12 111466567 intron variant T/A snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs74180173
rs74180173
KANK2
1 19 11181407 intron variant C/T snv 6.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs7254114
rs7254114
KANK2
1 19 11183861 intron variant A/C snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs12974711
rs12974711
KANK2
1 19 11186582 intron variant T/C snv 7.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs7314031
rs7314031 		1 12 112392775 intergenic variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs35675096
rs35675096 		1 12 112541231 intergenic variant ATAT/-;AT;ATATAT;ATATATAT;ATATATATAT;ATATATATATAT delins 0.18 0.700 1.000 1 2016 2016
dbSNP: rs34011672
rs34011672
ATP11A
1 13 112706624 intron variant A/G snv 7.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs4781072
rs4781072
RMI2 ; LOC105371082
1 16 11366623 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs35578928
rs35578928
RMI2 ; LOC400499 ; LOC105371082
1 16 11373920 intron variant G/A snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs2737265
rs2737265
TRPS1
2 8 115655407 intron variant A/G snv 0.24 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: rs9920
rs9920
CAV1
3 1.000 0.040 7 116560038 3 prime UTR variant T/C snv 6.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs34754277
rs34754277
TENT5C ; LOC100996263
1 1 117605270 intron variant T/C snv 0.14 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: rs68034047
rs68034047
CBL
1 11 119260224 intron variant TT/-;T;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTTT delins 0.700 1.000 1 2016 2016