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: rs9557195
rs9557195
1 13 99304368 intron variant T/C snv 0.16 0.800 1.000 2 2012 2017
dbSNP: rs3742130
rs3742130
3 0.925 0.040 13 99255087 synonymous variant G/A snv 0.16 0.16 0.700 1.000 1 2015 2015
dbSNP: rs9557207
rs9557207
2 13 99384164 intron variant A/G snv 0.17 0.700 1.000 1 2015 2015