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: rs62625044
rs62625044
HTR3E ; LOC105374249 ; HTR3E-AS1
1 1.000 3 184106769 3 prime UTR variant G/A snv 0.020 1.000 2 2008 2017
dbSNP: rs1054506960
rs1054506960
KLB
1 1.000 4 39434549 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1062613
rs1062613
HTR3A
7 0.807 0.080 11 113975284 5 prime UTR variant T/C snv 0.79 0.71 0.010 1.000 1 2017 2017
dbSNP: rs17618244
rs17618244
KLB
2 0.925 0.040 4 39446909 missense variant G/A snv 0.18 0.16 0.010 1.000 1 2011 2011
dbSNP: rs1768244
rs1768244
MOBP
1 1.000 3 39500688 intron variant C/A snv 0.36 0.010 1.000 1 2011 2011
dbSNP: rs1966265
rs1966265
FGFR4
8 0.827 0.160 5 177089630 missense variant G/A;T snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs211105
rs211105
TPH1
4 1.000 11 18033757 intron variant T/G snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs351855
rs351855
FGFR4
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.010 1.000 1 2011 2011