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: rs12812500
rs12812500
CPM
1 1.000 0.080 12 68963451 intron variant C/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2007 2007
dbSNP: rs2076295
rs2076295
DSP
5 0.882 0.080 6 7562999 intron variant T/G snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs2076304
rs2076304
DSP
1 1.000 0.080 6 7572029 synonymous variant A/G;T snv 0.76; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2609255
rs2609255
FAM13A
4 0.882 0.080 4 88890044 intron variant G/T snv 0.73 0.010 1.000 1 2018 2018
dbSNP: rs2744371
rs2744371
DSP
2 0.925 0.080 6 7553941 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs73329476
rs73329476 		2 0.925 0.080 12 69110303 regulatory region variant C/T snv 0.16 0.010 1.000 1 2019 2019