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: rs1324026337
rs1324026337
TGM2
2 0.925 0.120 20 38148038 missense variant T/C snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1801278
rs1801278
IRS1
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.010 1.000 1 2002 2002
dbSNP: rs2281939
rs2281939
SORBS1
9 0.790 0.320 10 95414595 missense variant T/C snv 8.2E-02 0.13 0.010 1.000 1 2003 2003
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 < 0.001 1 2000 2000
dbSNP: rs6471
rs6471
CYP21A2
24 0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 0.010 1.000 1 2011 2011
dbSNP: rs752163489
rs752163489
TMPRSS6
2 0.925 0.120 22 37096044 stop gained C/A;T snv 1.8E-04 0.010 1.000 1 2002 2002
dbSNP: rs757033996
rs757033996
HSD3B2
3 0.882 0.200 1 119419519 missense variant G/A snv 2.0E-05 4.9E-05 0.010 1.000 1 1994 1994
dbSNP: rs768768839
rs768768839
POMC
6 0.807 0.280 2 25161679 missense variant G/A snv 5.6E-06 0.010 1.000 1 2004 2004
dbSNP: rs772953044
rs772953044
ACOT7
2 0.925 0.120 1 6333503 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs8111699
rs8111699
STK11
6 0.851 0.200 19 1209715 intron variant C/G snv 0.53 0.010 1.000 1 2010 2010
dbSNP: rs9378251
rs9378251
CYP21A2
8 0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04 0.010 1.000 1 2004 2004