Source: ALL
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: rs1194494050
rs1194494050
ADA ; PKIG
1 1.000 0.160 20 44620435 non coding transcript exon variant C/T snv 4.0E-06 0.700 0
dbSNP: rs121908718
rs121908718
ADA ; PKIG
2 0.925 0.160 20 44621103 missense variant G/A;T snv 8.0E-06; 2.8E-05 0.700 0
dbSNP: rs121908722
rs121908722
ADA
2 0.925 0.160 20 44625580 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121908729
rs121908729
ADA ; PKIG
1 1.000 0.160 20 44622911 missense variant G/A snv 0.700 0
dbSNP: rs121908740
rs121908740
ADA ; PKIG
3 0.882 0.160 20 44623054 missense variant G/A snv 1.3E-04 7.0E-06 0.700 0
dbSNP: rs387906268
rs387906268
ADA ; PKIG
1 1.000 0.160 20 44619862 intron variant A/T snv 0.700 0