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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs2295633
rs2295633
FAAH
7 0.827 0.120 1 46408711 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs267606640
rs267606640
AGL
5 0.882 0.120 1 99913557 stop gained G/A snv 5.6E-05 5.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs2794521
rs2794521
CRP
15 0.742 0.480 1 159715306 upstream gene variant C/T snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs3091244
rs3091244
CRP
17 0.724 0.280 1 159714875 upstream gene variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs3766246
rs3766246
FAAH
2 1 46399999 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs4129267
rs4129267
IL6R
13 0.807 0.200 1 154453788 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs139194636
rs139194636
WARS2
6 0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 0.700 0
dbSNP: rs757600616
rs757600616
WARS2
6 0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 0.500 2 2011 2012
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs4251961
rs4251961
IL1RN
10 0.763 0.200 2 113116890 intron variant T/C snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs1553315329
rs1553315329
SPAST
3 2 32116153 stop gained C/A;T snv 0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs387907170
rs387907170
ETFDH
3 0.925 0.080 4 158703436 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1560755661
rs1560755661
TBCK
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs1042718
rs1042718
ADRB2
3 0.925 0.080 5 148827354 missense variant C/A;T snv 0.23; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs570874680
rs570874680
PRKAA1
1 5 40764955 missense variant G/A snv 7.2E-05 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2008 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2009 2012
dbSNP: rs199682734
rs199682734
OPRM1
1 6 154118718 synonymous variant C/T snv 8.1E-06 7.0E-06 0.010 1.000 1 2008 2008