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: rs8192675
rs8192675
5 0.925 0.080 3 171007094 intron variant T/C snv 0.42 0.710 1.000 3 2016 2019
dbSNP: rs1553784995
rs1553784995
1 1.000 0.080 3 170998236 stop gained C/T snv 0.700 0
dbSNP: rs371977235
rs371977235
1 1.000 0.080 3 171005284 splice donor variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1276756236
rs1276756236
1 1.000 0.080 3 171007159 missense variant G/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs5393
rs5393
1 1.000 0.080 3 171027131 intron variant T/G snv 0.23 0.010 1.000 1 2005 2005
dbSNP: rs5404
rs5404
1 1.000 0.080 3 171007166 synonymous variant C/T snv 0.11 0.16 0.010 1.000 1 2007 2007