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: rs760609867
rs760609867
1 1.000 8 37777998 missense variant G/A snv 2.8E-05 1.4E-05 0.800 1.000 1 2016 2016
dbSNP: rs752753379
rs752753379
1 1.000 8 37775408 missense variant T/C snv 8.0E-06 0.800 0
dbSNP: rs755946598
rs755946598
1 1.000 8 37766296 missense variant C/T snv 2.0E-05 3.5E-05 0.800 0
dbSNP: rs1057519273
rs1057519273
1 1.000 8 37765736 stop gained C/G snv 0.700 0
dbSNP: rs1057519424
rs1057519424
1 1.000 8 37772753 splice acceptor variant A/G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs767795673
rs767795673
1 1.000 8 37765634 splice donor variant G/A;T snv 1.0E-04 0.700 0