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: rs121913129
rs121913129
1 1.000 0.080 4 4862836 missense variant G/C snv 0.800 1.000 2 1996 2002
dbSNP: rs121913130
rs121913130
1 1.000 0.080 4 4860099 missense variant T/A;C snv 0.800 1.000 2 1996 2002
dbSNP: rs104893850
rs104893850
1 1.000 0.080 4 4862808 stop gained C/T snv 0.700 0
dbSNP: rs104893852
rs104893852
1 1.000 0.080 4 4860231 stop gained C/A snv 7.0E-06 0.700 0
dbSNP: rs1553877821
rs1553877821
1 1.000 0.080 4 4859979 frameshift variant -/A delins 0.700 0