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: rs397515421
rs397515421
2 1.000 6 151405787 missense variant C/T snv 2.0E-05 2.1E-05 0.800 1.000 4 2012 2016
dbSNP: rs1057519299
rs1057519299
1 1.000 6 151421321 splice acceptor variant C/- delins 0.700 0
dbSNP: rs115079861
rs115079861
3 1.000 6 151405236 stop lost C/G;T snv 2.0E-05; 4.0E-03 0.700 0
dbSNP: rs144972972
rs144972972
2 1.000 6 151430154 missense variant T/C snv 2.0E-04 2.4E-04 0.700 0
dbSNP: rs1562800908
rs1562800908
1 1.000 6 151445307 splice donor variant C/T snv 0.700 0
dbSNP: rs606231472
rs606231472
1 1.000 6 151436446 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0