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: rs1223430276
rs1223430276
1 1.000 22 20991684 missense variant G/A snv 7.0E-06 0.800 1.000 7 2006 2019
dbSNP: rs797045165
rs797045165
2 0.925 22 20991686 missense variant C/T snv 7.0E-06 0.800 1.000 6 2015 2019
dbSNP: rs797045166
rs797045166
1 1.000 22 20990474 missense variant G/A snv 0.800 1.000 6 2015 2019
dbSNP: rs148677674
rs148677674
3 0.882 0.160 22 20994988 missense variant C/A;T snv 2.4E-05; 1.6E-04 0.700 0
dbSNP: rs189150283
rs189150283
3 0.925 22 20992304 stop gained C/T snv 6.0E-05 7.0E-05 0.700 0
dbSNP: rs869320686
rs869320686
5 0.882 22 20990476 missense variant G/A snv 0.700 0