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: rs10038177
rs10038177
3 0.925 0.040 5 111100751 intron variant C/T snv 0.53 0.54 0.010 1.000 1 2017 2017
dbSNP: rs11241095
rs11241095
3 0.925 0.040 5 111103810 missense variant A/C;G snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs13186912
rs13186912
2 1.000 0.040 5 111121006 synonymous variant A/T snv 0.33 0.26 0.010 1.000 1 2011 2011
dbSNP: rs145437203
rs145437203
1 1.000 0.040 5 111092362 missense variant T/C snv 7.2E-03; 4.0E-06 7.6E-03 0.010 1.000 1 2011 2011
dbSNP: rs34595252
rs34595252
2 0.925 0.040 5 111119021 missense variant A/G snv 4.3E-03 4.5E-03 0.010 1.000 1 2006 2006