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: rs1556235551
rs1556235551
1 1.000 X 119574923 missense variant G/A snv 0.800 1.000 2 2006 2010
dbSNP: rs387906728
rs387906728
2 1.000 X 119574743 missense variant G/A snv 0.800 1.000 2 2006 2010
dbSNP: rs104894952
rs104894952
1 1.000 X 119583178 stop gained C/T snv 0.700 0
dbSNP: rs1556244406
rs1556244406
1 1.000 X 119583168 frameshift variant C/- delins 0.700 0