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: rs137853924
rs137853924
4 0.851 0.200 2 208128343 missense variant C/A;T snv 0.800 1.000 7 1999 2012
dbSNP: rs104893618
rs104893618
2 0.925 2 208129680 missense variant T/G snv 0.700 1.000 7 1999 2012
dbSNP: rs28931604
rs28931604
2 0.925 0.200 2 208128226 missense variant G/A snv 1.6E-03 1.8E-04 0.700 1.000 7 1999 2012
dbSNP: rs398122392
rs398122392
3 0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06 0.700 0
dbSNP: rs398122944
rs398122944
4 0.851 0.200 2 208128257 stop gained C/G;T snv 0.700 0
dbSNP: rs587778872
rs587778872
6 0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06 0.700 0