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: rs727505375
rs727505375
1 1.000 0.040 4 103658329 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs144292455
rs144292455
3 0.882 0.040 4 103656258 stop gained C/T snv 3.1E-04 3.8E-04 0.010 1.000 1 2012 2012
dbSNP: rs769742678
rs769742678
1 1.000 0.040 4 103719502 synonymous variant C/G snv 4.0E-06 0.010 1.000 1 2012 2012