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: rs73257280
rs73257280
NUBPL
1 14 31801445 intron variant G/A snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs77085399
rs77085399
PDZD9
1 16 21991047 intron variant AT/- delins 0.700 1.000 1 2018 2018
dbSNP: rs78226944
rs78226944
CRMP1
1 4 5855526 intron variant A/C snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs9613645
rs9613645
TTC28 ; LOC101929594
1 22 28551414 intron variant A/T snv 5.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs9613664
rs9613664
TTC28
1 22 28678999 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs12922822
rs12922822
UMOD
5 1.000 0.040 16 20356323 upstream gene variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1133104
rs1133104
CLEC4A
2 1.000 0.120 12 8138526 3 prime UTR variant T/G snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs2869546
rs2869546
CHRNA3
5 0.851 0.120 15 78615003 intron variant C/T snv 0.64 0.700 1.000 1 2018 2018