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: rs11225161
rs11225161
YAP1
1 1.000 0.120 11 102199763 intron variant C/T snv 7.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs1127760
rs1127760
FST
1 1.000 0.120 5 53484287 missense variant T/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1127761
rs1127761
FST
1 1.000 0.120 5 53484289 stop gained T/A;C snv 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2017 2017
dbSNP: rs11466313
rs11466313
TGFB1 ; B9D2
1 1.000 0.120 19 41355432 intron variant -/CTC;CTCATGTCCCTGCCCTCCCTCCTC delins 0.70 0.010 < 0.001 1 2015 2015
dbSNP: rs1151996
rs1151996
PPARG
1 1.000 0.120 3 12404308 intron variant C/A snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs11550558
rs11550558
RAB5B ; SUOX
1 1.000 0.120 12 55992292 3 prime UTR variant A/G snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1158932956
rs1158932956
CCNB1
1 1.000 0.120 5 69168280 frameshift variant -/T ins 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs11668344
rs11668344
TMEM150B
4 0.925 0.120 19 55322296 intron variant A/G snv 0.35 0.010 < 0.001 1 2015 2015
dbSNP: rs11692782
rs11692782
FSHR
1 1.000 0.120 2 49064754 intron variant T/A snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs11745088
rs11745088
FST
1 1.000 0.120 5 53483680 missense variant G/C snv 4.4E-03 4.2E-03 0.010 1.000 1 2007 2007
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs11889798
rs11889798
C2orf83 ; LOC729968
2 1.000 0.120 2 227616703 intron variant C/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs12050732
rs12050732
MAP2K1
1 1.000 0.120 15 66458277 intron variant A/C snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs12460989
rs12460989 		1 1.000 0.120 19 4785155 non coding transcript exon variant T/G snv 0.11 0.010 1.000 1 2008 2008
dbSNP: rs12473543
rs12473543
POMC
1 1.000 0.120 2 25164312 intron variant T/G snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs12495941
rs12495941
ADIPOQ
5 0.851 0.280 3 186850391 intron variant G/T snv 0.35 0.010 < 0.001 1 2017 2017
dbSNP: rs12529
rs12529
AKR1C3
10 0.776 0.280 10 5094459 missense variant C/G snv 0.50 0.45 0.010 < 0.001 1 2015 2015
dbSNP: rs12644822
rs12644822
GNRHR ; UBA6-AS1
1 1.000 0.120 4 67756817 intron variant G/A snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs12720071
rs12720071
CNR1
7 0.807 0.200 6 88141462 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs12943590
rs12943590
SLC47A2
1 1.000 0.120 17 19716685 5 prime UTR variant G/A snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs13138607
rs13138607
GNRHR ; UBA6-AS1
1 1.000 0.120 4 67755832 intron variant G/A snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs13212041
rs13212041
HTR1B ; LOC105377864
6 0.851 0.200 6 77461407 downstream gene variant C/T snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2009 2009