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: rs10507391
rs10507391
ALOX5AP
10 0.776 0.320 13 30737959 intron variant A/T snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs1051338
rs1051338
LIPA
7 0.807 0.120 10 89247603 missense variant T/G snv 0.32 0.26 0.010 1.000 1 2006 2006
dbSNP: rs10515639
rs10515639
CAMK2A
1 1.000 0.080 5 150276863 intron variant C/T snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs10516846
rs10516846
SNCA
1 1.000 0.080 4 89775184 intron variant A/G snv 3.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs1057233
rs1057233
SPI1
1 1.000 0.080 11 47354897 3 prime UTR variant G/A snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs1057518919
rs1057518919
PSEN1
5 0.851 0.120 14 73171023 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1057519991
rs1057519991
TP53
26 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1057520247
rs1057520247
BRCA2
5 0.882 0.200 13 32326591 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1060620
rs1060620
GAPDH ; LOC112268089
1 1.000 0.080 12 6535556 intron variant A/G;T snv 0.32 0.010 1.000 1 2008 2008
dbSNP: rs1065778
rs1065778
CYP19A1 ; MIR4713HG
1 1.000 0.080 15 51228009 intron variant T/C snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs1065852
rs1065852
CYP2D6 ; NDUFA6-DT ; LOC112268294
19 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 0.010 1.000 1 2016 2016
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs10752637
rs10752637
COPA ; NCSTN
1 1.000 0.080 1 160342475 intron variant T/A;C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs10770042
rs10770042
WEE1
1 1.000 0.080 11 9585485 synonymous variant A/G snv 0.15 0.15 0.010 1.000 1 2015 2015
dbSNP: rs10792421
rs10792421
MARK2
2 0.925 0.080 11 63837705 upstream gene variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs10807287
rs10807287
TTBK1
1 1.000 0.080 6 43254171 intron variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs10868366
rs10868366
GOLM1
1 1.000 0.080 9 86085145 intron variant G/T snv 0.24 0.010 1.000 1 2012 2012
dbSNP: rs10984186
rs10984186
LOC102724929 ; LINC02578
1 1.000 0.080 9 118708097 intron variant G/A snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs10997691
rs10997691
CTNNA3
1 1.000 0.080 10 67521827 intron variant A/C snv 0.16 0.13 0.010 < 0.001 1 2016 2016
dbSNP: rs11014002
rs11014002
KIAA1217 ; MIR603
4 0.851 0.200 10 24275724 non coding transcript exon variant C/A;T snv 4.1E-06; 7.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs11075996
rs11075996
FTO
1 1.000 0.080 16 53824112 intron variant C/A;T snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs11075997
rs11075997
FTO
1 1.000 0.080 16 53825000 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs11082498
rs11082498
EPG5
2 1.000 0.080 18 45922762 intron variant T/C snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs11121295
rs11121295
CHD5 ; LOC105376687
1 1.000 0.080 1 6132805 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018