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: 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: rs11308613
rs11308613
LINC02334
1 1.000 0.080 13 37983874 intron variant TT/-;T;TTT delins 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: 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: 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: 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: 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
dbSNP: rs17623373
rs17623373
ENPP6
1 1.000 0.080 4 184200580 intron variant T/C snv 4.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs17807909
rs17807909
DLG2
1 1.000 0.080 11 84624623 intron variant T/G snv 1.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs201466262
rs201466262
PXDNL
1 1.000 0.080 8 51495376 intron variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs28447319
rs28447319
SPINK4
1 1.000 0.080 9 33218924 intron variant C/A snv 0.17 0.700 1.000 1 2015 2015
dbSNP: rs3014707
rs3014707
MAN1C1
1 1.000 0.080 1 25682968 intron variant G/A snv 4.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs34334323
rs34334323
TBC1D2
1 1.000 0.080 9 98247330 intron variant AA/-;A;AAA;AAAA;AAAAAAAAA delins 0.47 0.700 1.000 1 2015 2015
dbSNP: rs34357008
rs34357008
ATAD2B
1 1.000 0.080 2 23914947 intron variant -/C delins 0.700 1.000 1 2015 2015
dbSNP: rs34766442
rs34766442 		1 1.000 0.080 8 37670153 intron variant -/T ins 0.700 1.000 1 2015 2015
dbSNP: rs35110721
rs35110721
CEP290
1 1.000 0.080 12 88123783 intron variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs35407685
rs35407685
BRAF
1 1.000 0.080 7 140786444 intron variant -/G delins 0.700 1.000 1 2015 2015
dbSNP: rs35513757
rs35513757
ESYT2
1 1.000 0.080 7 158817956 intron variant T/C snv 5.3E-03 0.700 1.000 1 2015 2015
dbSNP: rs35841741
rs35841741
LOC339166
1 1.000 0.080 17 5926528 intron variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs4648739
rs4648739
CFAP74
1 1.000 0.080 1 1962845 intron variant T/C snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs500816
rs500816
LOC105379315
1 1.000 0.080 8 20945592 intron variant C/T snv 0.49 0.700 1.000 1 2015 2015
dbSNP: rs643684
rs643684
LRP1B
1 1.000 0.080 2 140306261 intron variant T/C snv 0.84 0.700 1.000 1 2015 2015