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: rs755215402
rs755215402
1 1.000 0.040 5 138887639 missense variant T/A;C;G snv 8.2E-06 0.800 1.000 1 2016 2016
dbSNP: rs869320696
rs869320696
1 1.000 0.040 5 138827609 missense variant T/C snv 0.800 1.000 1 2016 2016
dbSNP: rs869320697
rs869320697
1 1.000 0.040 5 138827575 missense variant G/A snv 0.800 1.000 1 2016 2016
dbSNP: rs781520852
rs781520852
1 1.000 0.040 5 138783231 missense variant C/G;T snv 8.0E-06 0.700 1.000 1 2016 2016