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: rs397516463
rs397516463
4 0.851 0.080 1 201364369 missense variant G/A snv 1.4E-05 0.800 1.000 19 1994 2014
dbSNP: rs397516456
rs397516456
5 0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05 0.800 1.000 22 1994 2016
dbSNP: rs727504245
rs727504245
4 0.851 0.080 1 201365261 missense variant G/A snv 1.6E-05 2.1E-05 0.800 1.000 6 1997 2017
dbSNP: rs45466197
rs45466197
1 1.000 0.080 1 201361327 missense variant C/A snv 2.2E-04 7.0E-05 0.700 0
dbSNP: rs121964857
rs121964857
4 0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04 0.800 1.000 13 1994 2012