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: rs855791
rs855791
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.800 1.000 7 2010 2019
dbSNP: rs2413450
rs2413450
6 22 37074184 intron variant T/C snv 0.61 0.800 1.000 3 2012 2017
dbSNP: rs4820268
rs4820268
14 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.800 1.000 3 2010 2019
dbSNP: rs228918
rs228918
3 22 37110640 upstream gene variant T/C snv 0.40 0.800 1.000 2 2012 2016
dbSNP: rs13055107
rs13055107
1 22 37073781 intron variant G/A snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs1421312
rs1421312
4 22 37091770 intron variant A/G snv 0.45 0.700 1.000 1 2012 2012
dbSNP: rs17750152
rs17750152
1 22 37101986 intron variant C/T snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs2017764
rs2017764
2 22 37098875 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs2019848
rs2019848
2 22 37090225 intron variant G/A snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs2111833
rs2111833
2 1.000 0.080 22 37084757 synonymous variant C/G;T snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs2160906
rs2160906
3 22 37097138 intron variant G/A snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs2235321
rs2235321
2 22 37066886 synonymous variant G/A snv 0.36 0.38 0.700 1.000 1 2012 2012
dbSNP: rs2235323
rs2235323
2 22 37089153 intron variant T/C snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs2235324
rs2235324
3 22 37089684 missense variant T/C snv 0.38 0.40 0.700 1.000 1 2012 2012
dbSNP: rs2235329
rs2235329
1 22 37106383 intron variant T/C snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs2251655
rs2251655
4 22 37094652 intron variant C/T snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs2281090
rs2281090
2 22 37099330 intron variant G/A snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs2281091
rs2281091
2 22 37099510 intron variant C/T snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs228919
rs228919
3 22 37110673 upstream gene variant G/T snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs228921
rs228921
3 22 37110836 upstream gene variant A/G snv 0.41 0.700 1.000 1 2012 2012
dbSNP: rs2413451
rs2413451
2 22 37094651 intron variant A/G snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs2543509
rs2543509
2 22 37095799 intron variant A/G snv 0.43 0.700 1.000 1 2012 2012
dbSNP: rs2543513
rs2543513
2 22 37094356 intron variant A/G snv 0.43 0.700 1.000 1 2012 2012
dbSNP: rs2543514
rs2543514
2 22 37093234 intron variant G/C snv 0.43 0.700 1.000 1 2012 2012
dbSNP: rs2543519
rs2543519
3 0.925 0.080 22 37084229 missense variant A/C;G snv 0.22 0.700 1.000 1 2012 2012