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: rs121913400
rs121913400
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.800 1.000 10 2006 2015
dbSNP: rs587776850
rs587776850
1 1.000 0.080 3 41224643 inframe deletion TCT/- delins 0.700 0
dbSNP: rs775104326
rs775104326
10 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs370662884
rs370662884
3 0.925 0.080 3 41225816 synonymous variant G/A snv 3.2E-05 4.9E-05 0.020 1.000 2 2008 2014
dbSNP: rs1233296947
rs1233296947
5 0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs13072632
rs13072632
2 0.925 0.080 3 41220953 5 prime UTR variant T/C snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs139085081
rs139085081
1 1.000 0.080 3 41225436 missense variant C/T snv 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs4135385
rs4135385
14 0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19 0.010 1.000 1 2019 2019