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: rs104893836
rs104893836
GNRHR ; UBA6-AS1
7 0.790 0.160 4 67754019 missense variant T/C snv 2.8E-03 2.3E-03 0.730 1.000 3 2000 2012
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
6 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.010 1.000 1 2012 2012
dbSNP: rs104893844
rs104893844
GNRHR ; UBA6-AS1
4 0.882 0.160 4 67754068 missense variant C/T snv 3.6E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs104894897
rs104894897
NR0B1
4 0.882 0.160 X 30304676 missense variant A/C snv 0.010 < 0.001 1 2001 2001
dbSNP: rs1363196459
rs1363196459
EDNRA
3 0.882 0.040 4 147486001 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1377173003
rs1377173003
ADRA1A
1 1.000 0.040 8 26770258 missense variant T/C snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs148499544
rs148499544
GNRHR ; UBA6-AS1
3 0.882 0.160 4 67740670 missense variant A/C snv 8.0E-06 5.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs149091975
rs149091975
GLI2
1 1.000 0.040 2 120986480 missense variant G/A snv 4.3E-04 5.2E-04 0.010 1.000 1 2015 2015
dbSNP: rs1800447
rs1800447
LHB
4 0.851 0.200 19 49016648 missense variant A/G snv 6.5E-02 7.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs267607165
rs267607165
TUBB3
18 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs28935481
rs28935481
NR0B1
3 0.882 0.160 X 30304673 missense variant T/A;C snv 5.4E-06 0.010 1.000 1 1997 1997
dbSNP: rs34349826
rs34349826
LHB
4 0.851 0.200 19 49016626 missense variant A/G snv 4.9E-02 7.5E-02 0.010 1.000 1 2005 2005
dbSNP: rs74315418
rs74315418
PROKR2
5 0.827 0.160 20 5314116 missense variant C/A;T snv 3.3E-04; 7.1E-04 0.010 1.000 1 2012 2012
dbSNP: rs74452732
rs74452732
GNRHR ; UBA6-AS1
4 0.851 0.160 4 67753825 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs750566506
rs750566506
GNRHR ; UBA6-AS1
2 0.925 0.160 4 67754013 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs771470596
rs771470596
EDNRA
4 0.882 0.200 4 147539919 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs78861628
rs78861628
PROKR2
4 0.851 0.160 20 5302393 missense variant G/A snv 3.9E-03 1.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs970697573
rs970697573
LPAR2
3 0.882 0.040 19 19626965 missense variant C/T snv 0.010 1.000 1 2012 2012