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: rs1057519090
rs1057519090
COL4A2
7 0.851 0.160 13 110492105 missense variant G/A snv 0.700 0
dbSNP: rs202085145
rs202085145
SUOX
6 1.000 0.080 12 56002720 missense variant G/T snv 1.0E-03 5.6E-04 0.700 0
dbSNP: rs387907281
rs387907281
ATP1A3
13 0.752 0.280 19 41970284 missense variant C/T snv 0.700 0
dbSNP: rs398122887
rs398122887
ATP1A3
8 0.790 0.280 19 41967744 missense variant C/G;T snv 0.700 0
dbSNP: rs879255368
rs879255368
ATP1A3
5 19 41984953 missense variant C/G;T snv 0.700 0
dbSNP: rs2227982
rs2227982
PDCD1 ; LOC105373977
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2013 2013