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: rs587777383
rs587777383
ACTG2
4 0.882 0.040 2 73909130 missense variant C/A;T snv 4.0E-06 0.700 1.000 4 2014 2016
dbSNP: rs587777387
rs587777387
ACTG2
4 0.882 0.040 2 73914835 missense variant C/T snv 0.700 1.000 4 2014 2016
dbSNP: rs797044959
rs797044959
ACTG2
3 0.925 0.080 2 73914836 missense variant G/A snv 0.700 1.000 4 2014 2016
dbSNP: rs869312168
rs869312168
ACTG2
1 1.000 0.040 2 73901424 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1557178535
rs1557178535
FLNA
4 0.851 0.120 X 154363633 intron variant A/T snv 0.700 0
dbSNP: rs587777386
rs587777386
ACTG2
3 0.882 0.040 2 73901430 missense variant G/A snv 0.700 0
dbSNP: rs1219107667
rs1219107667
CLMP
1 1.000 0.040 11 123083734 stop gained G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs199529397
rs199529397
RET
2 0.925 0.080 10 43109070 missense variant G/A snv 5.6E-05 6.3E-05 0.010 1.000 1 2016 2016
dbSNP: rs6755901
rs6755901
LHCGR ; GTF2A1L ; STON1-GTF2A1L
1 1.000 0.040 2 48698607 splice region variant C/T snv 0.75 0.81 0.010 1.000 1 2015 2015
dbSNP: rs76397662
rs76397662
RET
4 0.851 0.200 10 43102345 missense variant G/A snv 7.9E-04 2.9E-04 0.010 1.000 1 2016 2016