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: rs121912668
rs121912668
SLC5A1
1 1.000 0.120 22 32043363 missense variant G/A snv 0.810 1.000 5 1991 2001
dbSNP: rs121912669
rs121912669
SLC5A1
1 1.000 0.120 22 32043364 missense variant A/G snv 4.0E-06 7.0E-06 0.800 1.000 4 1991 2001
dbSNP: rs371505974
rs371505974
SLC5A1
1 1.000 0.120 22 32084966 missense variant G/A snv 4.0E-06 0.710 1.000 4 1991 2001
dbSNP: rs200406921
rs200406921
SLC5A1
1 1.000 0.120 22 32099305 missense variant C/A;T snv 2.0E-05; 4.0E-06 0.710 1.000 1 1999 1999
dbSNP: rs201799893
rs201799893
SLC5A1
1 1.000 0.120 22 32104793 missense variant G/A snv 4.4E-05 1.4E-05 0.710 1.000 1 2011 2011
dbSNP: rs1172889016
rs1172889016
SLC5A1
1 1.000 0.120 22 32066992 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs17683011
rs17683011
SLC5A1
3 1.000 0.120 22 32049959 missense variant A/G snv 4.8E-02 4.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs17683430
rs17683430
SLC5A1
2 1.000 0.120 22 32091713 missense variant G/A snv 4.9E-02 4.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs33954001
rs33954001
SLC5A1 ; LOC105373000
2 1.000 0.120 22 32110063 missense variant C/G;T snv 4.8E-02; 2.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs747215838
rs747215838
SLC5A1
1 1.000 0.120 22 32091618 missense variant G/A snv 8.0E-06; 4.0E-06 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs888909415
rs888909415
SLC5A1
1 1.000 0.120 22 32084539 missense variant C/G snv 0.010 1.000 1 2018 2018