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: rs104894342
rs104894342
3 0.882 0.040 12 4379372 missense variant T/C snv 1.6E-05 1.4E-05 0.020 1.000 2 2005 2006
dbSNP: rs121908423
rs121908423
KL
3 0.882 0.040 13 33017018 missense variant A/G snv 4.8E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1380738696
rs1380738696
1 1.000 0.040 12 4379460 missense variant G/T snv 4.0E-06 0.010 1.000 1 2008 2008