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: rs10509681
rs10509681
CYP2C8
8 0.807 0.160 10 95038992 missense variant T/C snv 8.3E-02 8.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2013 2013
dbSNP: rs1057518903
rs1057518903
MEN1
6 0.882 0.160 11 64807890 splice region variant C/- delins 0.700 0
dbSNP: rs1057519700
rs1057519700
PDGFRA
1 4 54277981 missense variant C/A;G snv 0.710 1.000 3 2003 2006
dbSNP: rs1057519708
rs1057519708
KIT
2 1.000 0.040 4 54728096 missense variant T/A;G snv 0.700 1.000 2 2007 2011
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.030 1.000 3 2004 2013
dbSNP: rs1057519711
rs1057519711
KIT
5 0.882 0.240 4 54733168 missense variant T/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519713
rs1057519713
KIT
3 0.925 0.120 4 54736498 missense variant G/C snv 0.700 1.000 3 2007 2013
dbSNP: rs1057519761
rs1057519761
KIT
2 4 54733175 missense variant T/G snv 0.700 1.000 3 2007 2013
dbSNP: rs1057520031
rs1057520031
KIT
2 1.000 0.040 4 54727440 missense variant A/C;G snv 0.700 1.000 1 2006 2006
dbSNP: rs1057520032
rs1057520032
KIT
2 1.000 4 54727438 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1057520033
rs1057520033
KIT
2 1.000 0.040 4 54727439 missense variant G/C snv 0.700 1.000 1 2006 2006
dbSNP: rs1057520034
rs1057520034
KIT
1 4 54727447 missense variant TT/AA mnv 0.700 1.000 1 2006 2006
dbSNP: rs1057520035
rs1057520035
KIT
1 4 54727438 missense variant GG/TT mnv 0.700 1.000 1 2006 2006
dbSNP: rs1058930
rs1058930
CYP2C8
4 0.882 0.040 10 95058362 missense variant G/A;C snv 1.0E-04; 3.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs1060502521
rs1060502521
KIT
1 4 54733162 frameshift variant G/- del 0.700 0
dbSNP: rs1060502543
rs1060502543
KIT
1 4 54727501 inframe deletion GAT/- delins 0.700 1.000 5 1998 2015
dbSNP: rs1060503751
rs1060503751
SDHB
4 0.882 0.080 1 17028691 frameshift variant AG/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1060503752
rs1060503752
SDHB
3 0.925 0.080 1 17023994 frameshift variant CA/- del 0.700 0
dbSNP: rs1060503753
rs1060503753
SDHB
3 0.925 0.080 1 17027790 stop gained T/A snv 0.700 0
dbSNP: rs1060503757
rs1060503757
SDHB
5 0.882 0.080 1 17024024 frameshift variant G/- delins 0.700 1.000 5 2005 2013
dbSNP: rs1060503759
rs1060503759
SDHB
3 0.925 0.080 1 17024013 stop gained C/T snv 0.700 0
dbSNP: rs1060503762
rs1060503762
SDHB
3 0.925 0.080 1 17044820 stop gained C/T snv 0.700 0
dbSNP: rs1060503763
rs1060503763
SDHB
3 0.925 0.080 1 17027848 stop gained A/C snv 0.700 0
dbSNP: rs1060503764
rs1060503764
SDHB
4 0.925 0.080 1 17022655 frameshift variant -/A delins 0.700 0