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: rs104893837
rs104893837
GNRHR ; UBA6-AS1
6 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.820 1.000 21 1997 2017
dbSNP: rs104893836
rs104893836
GNRHR ; UBA6-AS1
7 0.790 0.160 4 67754019 missense variant T/C snv 2.8E-03 2.3E-03 0.820 1.000 19 1997 2014
dbSNP: rs28933074
rs28933074
GNRHR ; UBA6-AS1
1 1.000 0.040 4 67740616 missense variant T/C snv 4.0E-06 1.4E-05 0.810 1.000 13 1997 2014
dbSNP: rs104893842
rs104893842
GNRHR ; UBA6-AS1
2 0.925 0.040 4 67753920 missense variant C/T snv 1.4E-04 2.1E-04 0.800 1.000 19 1997 2015
dbSNP: rs104893838
rs104893838
GNRHR ; UBA6-AS1
1 1.000 0.040 4 67753950 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-05 0.800 1.000 12 1997 2014
dbSNP: rs104893839
rs104893839
GNRHR ; UBA6-AS1
1 1.000 0.040 4 67744659 missense variant G/T snv 0.800 1.000 12 1997 2014
dbSNP: rs104893840
rs104893840
GNRHR ; UBA6-AS1
1 1.000 0.040 4 67753832 missense variant A/T snv 0.800 1.000 12 1997 2014
dbSNP: rs104893843
rs104893843
GNRHR ; UBA6-AS1
2 0.925 0.040 4 67754306 missense variant A/T snv 1.3E-04 6.3E-05 0.800 1.000 12 1997 2014
dbSNP: rs104893844
rs104893844
GNRHR ; UBA6-AS1
4 0.882 0.160 4 67754068 missense variant C/T snv 3.6E-05 7.0E-06 0.800 1.000 12 1997 2014
dbSNP: rs74452732
rs74452732
GNRHR ; UBA6-AS1
4 0.851 0.160 4 67753825 missense variant C/A;T snv 4.0E-06 0.800 1.000 12 1997 2014
dbSNP: rs1391808526
rs1391808526
GNRHR ; UBA6-AS1
1 1.000 0.040 4 67754089 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 12 1997 2014
dbSNP: rs144900788
rs144900788
GNRHR ; UBA6-AS1
1 1.000 0.040 4 67753900 missense variant G/A;T snv 1.3E-03 0.700 1.000 12 1997 2014
dbSNP: rs148499544
rs148499544
GNRHR ; UBA6-AS1
3 0.882 0.160 4 67740670 missense variant A/C snv 8.0E-06 5.6E-05 0.700 1.000 12 1997 2014
dbSNP: rs886907903
rs886907903
GNRHR ; UBA6-AS1
1 1.000 0.040 4 67754226 missense variant A/C snv 0.700 1.000 12 1997 2014
dbSNP: rs515726219
rs515726219
GNRHR ; UBA6-AS1
1 1.000 0.040 4 67754242 splice donor variant T/C snv 3.6E-05 7.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs515726224
rs515726224
FGFR1
3 0.925 0.320 8 38417962 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs606231407
rs606231407
FGF8 ; LOC105378457
2 1.000 0.040 10 101770613 missense variant C/T snv 1.6E-05 0.700 1.000 1 2013 2013
dbSNP: rs104893841
rs104893841
GNRHR ; UBA6-AS1
1 1.000 0.040 4 67740526 stop gained A/T snv 0.700 0
dbSNP: rs104893847
rs104893847
GNRHR ; UBA6-AS1
1 1.000 0.040 4 67740508 missense variant G/A snv 0.700 0
dbSNP: rs1057518936
rs1057518936
PNPLA6
3 0.925 0.120 19 7541025 missense variant C/G snv 0.700 0
dbSNP: rs121909628
rs121909628
FGFR1
3 0.925 0.160 8 38414892 stop gained G/A;C snv 0.700 0
dbSNP: rs121909641
rs121909641
FGFR1
9 0.763 0.520 8 38419720 missense variant G/A snv 0.700 0
dbSNP: rs138249161
rs138249161
POLR3B
8 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.700 0
dbSNP: rs199538589
rs199538589
HS6ST1
2 0.925 0.040 2 128268254 missense variant G/A snv 1.9E-03 9.3E-04 0.700 0
dbSNP: rs281865427
rs281865427
GNRHR ; UBA6-AS1
1 1.000 0.040 4 67754305 missense variant GA/TT mnv 0.700 0