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: rs763010207
rs763010207
HNF4A
3 0.925 0.080 20 44414531 missense variant A/G snv 4.0E-06 1.4E-05 0.020 1.000 2 2000 2001
dbSNP: rs121909262
rs121909262
CASR
5 0.851 0.120 3 122254304 missense variant C/G;T snv 0.010 1.000 1 2000 2000
dbSNP: rs1282382243
rs1282382243
DLEU1 ; DLEU7 ; DLEU7-AS1
8 0.807 0.120 13 50843630 missense variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs137853243
rs137853243
HNF1A
3 0.882 0.080 12 120988841 missense variant C/T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs370239205
rs370239205
HNF4A
3 0.882 0.080 20 44413708 missense variant C/A;T snv 4.0E-05; 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs8192556
rs8192556
NEUROD1 ; CERKL
2 0.925 0.120 2 181678271 missense variant G/T snv 1.9E-02 1.6E-02 0.010 1.000 1 2000 2000
dbSNP: rs8192678
rs8192678
PPARGC1A
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.100 0.879 33 2001 2020
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.833 12 2001 2016
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.100 1.000 12 2001 2016
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.818 11 2001 2016
dbSNP: rs114202595
rs114202595
PAX4
4 0.882 0.120 7 127614533 missense variant G/A;T snv 1.2E-04; 9.1E-06 0.850 1.000 7 2001 2013
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.060 1.000 6 2001 2016
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.040 1.000 4 2001 2003
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.030 1.000 3 2001 2004
dbSNP: rs17366743
rs17366743
ADIPOQ ; ADIPOQ-AS1
7 0.807 0.280 3 186854300 missense variant T/C snv 2.2E-02 2.1E-02 0.030 0.667 3 2001 2019
dbSNP: rs2270565
rs2270565
UCP1
4 0.882 0.080 4 140562317 missense variant T/A snv 8.9E-02 6.5E-02 0.020 0.500 2 2001 2010
dbSNP: rs2281939
rs2281939
SORBS1
9 0.790 0.320 10 95414595 missense variant T/C snv 8.2E-02 0.13 0.020 1.000 2 2001 2016
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2001 2019
dbSNP: rs1320041799
rs1320041799
HNF1A ; HNF1A-AS1
1 1.000 0.080 12 120978994 missense variant G/A snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs199644078
rs199644078
PDX1
1 1.000 0.080 13 27924565 missense variant C/A;T snv 6.0E-03; 1.8E-05 0.010 1.000 1 2001 2001
dbSNP: rs63750900
rs63750900
PSEN1
9 0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs746722465
rs746722465
FANCD2
1 1.000 0.080 3 10042563 missense variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.100 0.900 20 2002 2018
dbSNP: rs1181860747
rs1181860747
INSR
10 0.776 0.240 19 7122961 missense variant C/T snv 0.070 1.000 7 2002 2019
dbSNP: rs121918673
rs121918673
HNF1B
3 0.925 0.200 17 37701122 missense variant G/C snv 1.9E-05 0.810 1.000 3 2002 2013