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: rs1044925
rs1044925
SOAT1
6 0.827 0.120 1 179354603 3 prime UTR variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1799987
rs1799987
CCR5 ; CCR5AS
10 0.763 0.200 3 46370444 intron variant A/G snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs333
rs333
CCR5 ; CCR5AS
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs8177374
rs8177374
TIRAP
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.010 < 0.001 1 2012 2012