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: rs1057518949
rs1057518949
1 1.000 0.080 7 128398560 missense variant T/G snv 0.700 0
dbSNP: rs121912550
rs121912550
5 0.827 0.120 7 128398557 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121912552
rs121912552
3 0.882 0.080 7 128398562 missense variant C/G snv 0.010 1.000 1 2010 2010