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: rs2544809
rs2544809
1 5 177458498 missense variant T/C snv 0.46; 4.0E-06 0.50 0.700 1.000 1 2013 2013
dbSNP: rs2545794
rs2545794
1 5 177467755 synonymous variant C/T snv 0.43 0.48 0.700 1.000 1 2013 2013
dbSNP: rs335420
rs335420
1 5 177471618 intron variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs335466
rs335466
1 5 177462529 intron variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs335467
rs335467
1 5 177463641 intron variant A/G snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs335468
rs335468
1 5 177465348 intron variant G/A snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs337374
rs337374
1 5 177463415 intron variant G/A snv 0.43 0.700 1.000 1 2013 2013