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: rs672601307
rs672601307
2 1.000 0.080 15 50490443 missense variant T/C snv 0.800 1.000 1 2017 2017
dbSNP: rs672601308
rs672601308
1 1.000 0.080 15 50490444 missense variant C/G snv 0.800 1.000 1 2017 2017
dbSNP: rs672601311
rs672601311
1 1.000 0.080 15 50490450 missense variant C/G snv 0.800 1.000 1 2017 2017
dbSNP: rs137853226
rs137853226
3 0.882 0.160 3 50256262 missense variant C/G;T snv 0.700 0
dbSNP: rs672601306
rs672601306
1 1.000 0.080 15 50490442 inframe deletion TCC/- delins 0.700 0
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.020 0.500 2 2009 2014
dbSNP: rs351855
rs351855
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.010 1.000 1 2010 2010
dbSNP: rs773454677
rs773454677
3 0.925 0.160 7 55205466 missense variant G/A snv 1.2E-05 0.010 1.000 1 2017 2017