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: rs796052130
rs796052130
UFSP2 ; C4orf47
1 1.000 0.080 4 185408399 missense variant A/C;G snv 4.0E-06; 1.6E-05 0.810 1.000 1 2018 2018
dbSNP: rs1554022725
rs1554022725
UFSP2 ; C4orf47
3 0.882 0.120 4 185403540 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs199643834
rs199643834
MPRIP ; FLCN
6 0.827 0.200 17 17215000 missense variant T/C snv 1.9E-04 1.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs747370442
rs747370442
THBS1
3 0.925 0.120 15 39584048 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs758586312
rs758586312
SMAD3
3 0.925 0.120 15 67184823 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs879255664
rs879255664
FLCN
4 0.882 0.200 17 17222517 missense variant G/A snv 0.010 1.000 1 2017 2017