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: rs10034950
rs10034950
LOC107986272
1 1.000 0.080 4 34908853 intergenic variant G/A snv 2.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs10162376
rs10162376
CEP128
1 1.000 0.080 14 80564149 intron variant T/C snv 3.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs1040026
rs1040026
PTPRR
1 1.000 0.080 12 70816898 intron variant T/C snv 4.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs10788289
rs10788289 		1 1.000 0.080 10 83884859 intergenic variant A/G snv 0.96 0.700 1.000 1 2015 2015
dbSNP: rs11101682
rs11101682
TUBGCP2
1 1.000 0.080 10 133297990 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs11216131
rs11216131
BUD13
1 1.000 0.080 11 116762864 missense variant C/A snv 1.1E-03 1.3E-03 0.700 1.000 1 2015 2015
dbSNP: rs11308613
rs11308613
LINC02334
1 1.000 0.080 13 37983874 intron variant TT/-;T;TTT delins 0.700 1.000 1 2015 2015
dbSNP: rs1137256
rs1137256
RRP7BP ; SERHL2
1 1.000 0.080 22 42572508 synonymous variant G/A snv 2.5E-04 2.0E-04 0.700 1.000 1 2015 2015
dbSNP: rs11551002
rs11551002
APLP1 ; LOC107985317
1 1.000 0.080 19 35871260 missense variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs11711047
rs11711047
MITF
1 1.000 0.080 3 69914184 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs11833289
rs11833289 		1 1.000 0.080 12 55057910 regulatory region variant T/C snv 3.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs11894344
rs11894344
FIGLA
1 1.000 0.080 2 70792111 upstream gene variant C/T snv 3.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs12100649
rs12100649
LOC105370476
1 1.000 0.080 14 45537037 intergenic variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs12143151
rs12143151 		1 1.000 0.080 1 82478098 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs12528886
rs12528886
L3MBTL3 ; SAMD3
1 1.000 0.080 6 130132737 intron variant A/C snv 3.1E-03 0.700 1.000 1 2015 2015
dbSNP: rs13107461
rs13107461
TMPRSS11F
1 1.000 0.080 4 68112851 intron variant G/A snv 8.2E-03 0.700 1.000 1 2015 2015
dbSNP: rs13400297
rs13400297
AGFG1
1 1.000 0.080 2 227557073 3 prime UTR variant G/A snv 4.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs138879185
rs138879185
TEKT1
1 1.000 0.080 17 6803942 intron variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs1397427
rs1397427
ARAP2
1 1.000 0.080 4 36005283 intron variant T/G snv 4.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs1632862
rs1632862 		1 1.000 0.080 6 31001226 intergenic variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1676712
rs1676712
ADAM12
1 1.000 0.080 10 126148271 intron variant A/G snv 0.10 0.700 1.000 1 2015 2015
dbSNP: rs16990169
rs16990169
DMD
1 1.000 0.080 X 32217032 missense variant G/A snv 2.9E-03 9.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs16990641
rs16990641 		1 1.000 0.080 4 35007586 intergenic variant C/T snv 1.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs17021683
rs17021683 		1 1.000 0.080 2 82389326 intergenic variant G/T snv 2.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs17031323
rs17031323
LINC01811
1 1.000 0.080 3 34110310 intron variant C/T snv 4.3E-03 0.700 1.000 1 2015 2015