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: rs1310063298
rs1310063298
ADRA1A
2 1.000 0.080 8 26864701 missense variant C/A snv 4.0E-06 0.020 1.000 2 2017 2017
dbSNP: rs1265011107
rs1265011107
WDTC1
3 1.000 0.080 1 27283372 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs225014
rs225014
DIO2
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.010 1.000 1 2018 2018
dbSNP: rs5030732
rs5030732
UCHL1 ; UCHL1-AS1
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.010 1.000 1 2006 2006
dbSNP: rs537742207
rs537742207
MDH2
3 1.000 0.080 7 76054974 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs66468541
rs66468541
HSPD1
4 0.925 0.080 2 197497275 missense variant C/T snv 0.010 1.000 1 2019 2019