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: rs1009388
rs1009388
POMC
1 1.000 0.040 2 25168232 intron variant G/C snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs1544223
rs1544223
ADORA3 ; TMIGD3
1 1.000 0.040 1 111503935 intron variant C/T snv 0.72 0.010 1.000 1 2018 2018
dbSNP: rs200432861
rs200432861
PKHD1
1 1.000 0.040 6 51775844 missense variant G/A;C snv 2.4E-05; 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs3754860
rs3754860
POMC
1 1.000 0.040 2 25170385 upstream gene variant C/T snv 0.22 0.010 1.000 1 2009 2009
dbSNP: rs3787429
rs3787429
HRH3
1 1.000 0.040 20 62216348 missense variant C/G;T snv 4.5E-06; 0.45 0.010 1.000 1 2016 2016
dbSNP: rs548787835
rs548787835
SQSTM1
1 1.000 0.040 5 179823911 missense variant C/G;T snv 1.2E-05; 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs767312316
rs767312316
UTS2R
1 1.000 0.040 17 82375046 stop gained C/A;G;T snv 6.6E-05; 1.7E-05; 1.7E-05 0.010 1.000 1 2015 2015
dbSNP: rs17859821
rs17859821
MMP2
2 1.000 0.040 16 55478141 intron variant G/A;C snv 0.11 0.020 1.000 2 2009 2009
dbSNP: rs34376731
rs34376731
PPP1R1A
2 0.925 0.040 12 54581014 missense variant C/T snv 4.6E-03 1.9E-02 0.020 1.000 2 2008 2009
dbSNP: rs9909004
rs9909004
PRKCA
2 0.925 0.040 17 66310015 intron variant C/T snv 0.59 0.020 1.000 2 2017 2019
dbSNP: rs10932374
rs10932374
ERBB4
2 0.925 0.040 2 211379678 3 prime UTR variant G/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs13003941
rs13003941
ERBB4
2 0.925 0.040 2 211378978 3 prime UTR variant G/C;T snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1337916669
rs1337916669
HFE ; LOC108783645
2 0.925 0.040 6 26092879 missense variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1429117513
rs1429117513
LAG3
2 0.925 0.040 12 6775316 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1595064
rs1595064
ERBB4
2 0.925 0.040 2 211378020 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1595065
rs1595065
ERBB4
2 0.925 0.040 2 211377916 3 prime UTR variant G/A snv 0.73 0.010 1.000 1 2016 2016
dbSNP: rs17740607
rs17740607
HDC
2 0.925 0.160 15 50263347 missense variant G/A;C snv 8.5E-02; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1805126
rs1805126
SCN5A
2 0.925 0.040 3 38550915 synonymous variant A/G snv 0.39 0.44 0.010 1.000 1 2018 2018
dbSNP: rs2241562
rs2241562
HRH2
2 0.925 0.040 5 175684809 intron variant G/C;T snv 1.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs3212247
rs3212247
RIPK3
2 0.925 0.040 14 24340589 upstream gene variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs3212254
rs3212254
RIPK3 ; ADCY4
2 0.925 0.040 14 24336257 missense variant G/A;T snv 1.2E-05; 7.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs3748960
rs3748960
ERBB4
2 0.925 0.040 2 211383109 3 prime UTR variant C/T snv 0.96 0.010 1.000 1 2016 2016
dbSNP: rs452159
rs452159
ADA
2 1.000 0.040 20 44642461 intron variant G/T snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs4822489
rs4822489
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
2 0.925 0.200 22 24437792 intron variant T/G snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs6123837
rs6123837
GNAS ; LOC101927932
2 0.925 0.040 20 58890516 synonymous variant G/A snv 0.30 0.010 1.000 1 2013 2013