Source: ALL
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: rs2249296
rs2249296
CLCA2
2 0.925 0.040 1 86444581 intron variant T/C snv 0.85 0.700 1.000 1 2015 2015
dbSNP: rs1545620
rs1545620
MYO9B
6 0.827 0.080 19 17192965 missense variant T/A;G snv 1.3E-05; 0.52 0.010 < 0.001 1 2014 2014
dbSNP: rs962917
rs962917
MYO9B
4 0.882 0.040 19 17191438 intron variant G/A snv 0.45 0.010 < 0.001 1 2014 2014