Source: BEFREE ×
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: rs104894230
rs104894230
HRAS ; LRRC56
42 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs104894351
rs104894351
HSPB8 ; LOC107984440
6 0.827 0.080 12 119187078 missense variant A/C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs1221790507
rs1221790507
KLHL40
1 3 42686221 stop gained G/A snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1388207245
rs1388207245
CETN1
1 18 580558 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs207482230
rs207482230
TFG
3 0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs397509420
rs397509420
KLHL40
1 1.000 0.080 3 42686220 stop gained G/A;T snv 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2017 2017
dbSNP: rs74521370
rs74521370
JSRP1
1 19 2253733 missense variant G/A snv 1.0E-02 1.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs753056697
rs753056697
AKR1A1
2 1.000 0.040 1 45568049 missense variant G/A snv 2.6E-04 3.5E-05 0.010 1.000 1 2006 2006
dbSNP: rs759856530
rs759856530
SDF4
1 1 1218858 missense variant A/G snv 1.6E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs778022582
rs778022582
KLHL40
3 0.925 0.080 3 42688963 missense variant A/C;G snv 9.5E-05; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs80043033
rs80043033
JSRP1
1 19 2252991 missense variant C/G snv 0.20 0.16 0.010 1.000 1 2013 2013