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: rs1810396
rs1810396
TG
1 1.000 0.040 8 132906524 intron variant A/G snv 0.76 0.700 1.000 1 2019 2019
dbSNP: rs2076738
rs2076738
TG
6 0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs370991693
rs370991693
4 0.851 0.160 8 133017916 missense variant C/A snv 4.4E-05 2.8E-05 0.020 1.000 2 2008 2009
dbSNP: rs121912648
rs121912648
TG
2 0.925 0.040 8 132882609 stop gained C/T snv 3.6E-04 4.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs142698837
rs142698837
TG
5 0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04 0.700 0