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: rs11125075
rs11125075
LINC02583
3 2 46429205 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1447563
rs1447563 		3 2 46410225 regulatory region variant A/C;T snv 0.36 0.700 1.000 1 2010 2010
dbSNP: rs1868092
rs1868092
EPAS1
4 1.000 0.040 2 46387063 downstream gene variant G/A snv 0.34 0.700 1.000 1 2010 2010
dbSNP: rs4953388
rs4953388 		3 2 46486062 downstream gene variant G/A snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs4953396
rs4953396
ATP6V1E2
3 2 46509655 intron variant C/A snv 0.27 0.700 1.000 1 2010 2010
dbSNP: rs6735530
rs6735530
CRIPT
3 2 46621307 intron variant T/C snv 0.26 0.700 1.000 1 2010 2010
dbSNP: rs896210
rs896210
ATP6V1E2
3 2 46519606 5 prime UTR variant G/A snv 0.50 0.700 1.000 1 2010 2010
dbSNP: rs982414
rs982414
PIGF ; CRIPT
3 2 46618437 intron variant A/G snv 9.7E-03 0.700 1.000 1 2010 2010