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: rs879253799
rs879253799
DCAF17
5 0.882 0.320 2 171443559 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1057515576
rs1057515576
ARL6
9 0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins 0.700 0
dbSNP: rs1559279177
rs1559279177
HJV
5 0.851 0.160 1 146018661 frameshift variant G/- del 0.700 0
dbSNP: rs549625604
rs549625604
BBS10
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 0
dbSNP: rs775081992
rs775081992
BBS9
5 0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 0.700 0
dbSNP: rs886040857
rs886040857
EIF2S3
7 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
dbSNP: rs12150660
rs12150660
SHBG
5 1.000 0.040 17 7618597 intron variant G/T snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs13447333
rs13447333
MC4R
2 0.925 0.120 18 60371808 missense variant C/T snv 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs1371149614
rs1371149614
SHBG
2 1.000 0.040 17 7630488 missense variant G/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs144292455
rs144292455
TACR3
3 0.882 0.040 4 103656258 stop gained C/T snv 3.1E-04 3.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs144994507
rs144994507
PROKR2
1 1.000 0.040 20 5314219 missense variant C/T snv 4.5E-03 3.0E-03 0.010 1.000 1 2012 2012
dbSNP: rs1799941
rs1799941
SHBG
11 0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2010 2010
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2015 2015
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs369831329
rs369831329
PROKR2
2 0.925 0.160 20 5302374 missense variant A/T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs374124070
rs374124070
LHX4
1 1.000 0.040 1 180266394 missense variant G/A snv 4.8E-05 9.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs587777343
rs587777343
STUB1 ; JMJD8
5 0.925 0.120 16 682232 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs5934505
rs5934505 		10 0.776 0.120 X 8945785 intergenic variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs6258
rs6258
SHBG
5 1.000 0.040 17 7631360 missense variant C/A;T snv 5.6E-05; 4.5E-03 0.010 1.000 1 2019 2019
dbSNP: rs690016544
rs690016544
STUB1 ; JMJD8 ; LINC02867
3 0.882 0.160 16 681186 missense variant A/G snv 4.8E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs74315416
rs74315416
PROKR2
3 0.882 0.160 20 5302677 missense variant A/C snv 2.3E-03 2.1E-03 0.010 1.000 1 2012 2012
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: rs777588279
rs777588279
PROK2
1 1.000 0.040 3 71772800 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012