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: rs11110094
rs11110094
ANKS1B
1 12 99894329 intron variant G/A snv 3.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs11640734
rs11640734
ZNF276
1 16 89729389 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs148562661
rs148562661 		1 6 145122980 intergenic variant C/G snv 1.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs1530455
rs1530455
PDIA5
1 3 123136052 intron variant T/C snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs17106604
rs17106604
ADCK1
1 14 77912813 intron variant C/T snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs17282552
rs17282552
KLF7
1 2 207109091 intron variant T/C snv 2.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs184080173
rs184080173
NAV3
1 12 77331424 intron variant T/C snv 4.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs45498698
rs45498698
EPHA8
3 1 22569327 missense variant G/A snv 6.7E-03 7.1E-03 0.700 1.000 1 2017 2017