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: rs201893545
rs201893545
IMPG2
2 0.925 0.080 3 101304277 missense variant A/G snv 6.4E-05 4.2E-05 0.800 1.000 3 2010 2017
dbSNP: rs713993049
rs713993049
IMPG2
2 0.925 0.080 3 101232784 missense variant C/A snv 8.0E-06 0.800 0
dbSNP: rs1559642470
rs1559642470
IMPG2
1 1.000 3 101242894 missense variant A/T snv 0.700 0
dbSNP: rs763295314
rs763295314
IMPG2
1 1.000 3 101291499 stop gained A/C snv 7.0E-06 0.700 0