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: rs7775397
rs7775397
TSBP1 ; TSBP1-AS1
7 0.790 0.400 6 32293475 missense variant T/G snv 6.0E-02 6.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs3115663
rs3115663
PRRC2A ; MIR6832
7 0.827 0.360 6 31634066 non coding transcript exon variant T/C snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs389884
rs389884
CYP21A2 ; DXO ; STK19
10 0.776 0.440 6 31973120 non coding transcript exon variant A/G snv 7.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs652888
rs652888
CYP21A2 ; EHMT2 ; EHMT2-AS1 ; LOC107986588
10 0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20 0.700 1.000 1 2011 2011
dbSNP: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2013 2013
dbSNP: rs9267522
rs9267522
PRRC2A
1 1.000 0.120 6 31635993 synonymous variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs2233956
rs2233956
C6orf15 ; PSORS1C1
5 0.827 0.320 6 31113428 upstream gene variant T/C snv 0.12 0.700 1.000 1 2011 2011