1 |
PPARG |
NM_005037.5(PPARG):c.-2-29900A>G | ‎‎
SNV |
association |
440735 |
rs1553638903 |
3:12391303-12391303 |
3:12349804-12349804 |
2 |
PPARG |
NM_005037.5(PPARG):c.-2-29880A>T | ‎‎
SNV |
association |
440734 |
rs1553638909 |
3:12391323-12391323 |
3:12349824-12349824 |
3 |
PPARG |
NM_005037.5(PPARG):c.-2-28918A>C | ‎‎
SNV |
association |
440733 |
rs948820149 |
3:12392285-12392285 |
3:12350786-12350786 |
4 |
SLC2A2 |
NM_000340.2(SLC2A2):c.1331G>A (p.Trp444Ter) | ‎‎
SNV |
Affects |
444009 |
rs1553784995 |
3:170716025-170716025 |
3:170998236-170998236 |
5 |
SLC30A8 |
NM_001172813.2(SLC30A8):c.265C>T (p.Arg89Ter) | ‎‎
SNV |
protective |
141421 |
rs200185429 |
8:118165323-118165323 |
8:117153084-117153084 |
6 |
SLC30A8 |
NM_001172813.2(SLC30A8):c.-47_-41del | ‎‎
deletion |
protective |
141422 |
rs587777582 |
8:118159221-118159227 |
8:117146982-117146988 |
7 |
HNF4A |
NM_175914.4(HNF4A):c.187C>T (p.Arg63Trp) | ‎‎
SNV |
Pathogenic |
156152 |
rs587777732 |
20:43034835-43034835 |
20:44406195-44406195 |
8 |
GCK |
NM_000162.5(GCK):c.544G>A (p.Val182Met) | ‎‎
SNV |
Pathogenic |
129144 |
rs587780345 |
7:44189603-44189603 |
7:44150004-44150004 |
9 |
PAX4 |
NM_001366110.1(PAX4):c.385C>T (p.Arg129Trp) | ‎‎
SNV |
Pathogenic |
13790 |
rs114202595 |
7:127254587-127254587 |
7:127614533-127614533 |
10 |
AKT2 |
NM_001626.6(AKT2):c.821G>A (p.Arg274His) | ‎‎
SNV |
Pathogenic |
13982 |
rs121434593 |
19:40743886-40743886 |
19:40237979-40237979 |
11 |
INSR |
NM_000208.4(INSR):c.3572G>A (p.Arg1191Gln) | ‎‎
SNV |
Pathogenic |
14700 |
rs121913150 |
19:7120718-7120718 |
19:7120707-7120707 |
12 |
GPD2 |
NM_000408.5(GPD2):c.1904T>C (p.Phe635Ser) | ‎‎
SNV |
Pathogenic |
16081 |
rs121918407 |
2:157435621-157435621 |
2:156579109-156579109 |
13 |
IRS1 |
NM_005544.2(IRS1):c.2164_2166GGT[1] (p.Gly723del) | ‎‎
short repeat |
Pathogenic |
29760 |
rs1259467443 |
2:227661286-227661288 |
2:226796570-226796572 |
14 |
IRS1 |
NM_005544.2(IRS1):c.1823C>G (p.Thr608Arg) | ‎‎
SNV |
Pathogenic |
29762 |
rs104893642 |
2:227661632-227661632 |
2:226796916-226796916 |
15 |
HNF1A |
NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu) | ‎‎
SNV |
Pathogenic |
14928 |
rs137853236 |
12:121435307-121435307 |
12:120997504-120997504 |
16 |
MAPK8IP1 |
NM_005456.4(MAPK8IP1):c.176G>A (p.Ser59Asn) | ‎‎
SNV |
Pathogenic |
5419 |
rs119489103 |
11:45919710-45919710 |
11:45898159-45898159 |
17 |
NEUROD1 |
NM_002500.4(NEUROD1):c.332G>T (p.Arg111Leu) | ‎‎
SNV |
Pathogenic |
7853 |
rs104893649 |
2:182543256-182543256 |
2:181678529-181678529 |
18 |
PDX1 |
NM_000209.4(PDX1):c.492G>T (p.Glu164Asp) | ‎‎
SNV |
Pathogenic,risk factor |
8864 |
rs80356661 |
13:28498478-28498478 |
13:27924341-27924341 |
19 |
ABCC8 |
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) | ‎‎
SNV |
Pathogenic |
9105 |
rs137852673 |
11:17417462-17417462 |
11:17395915-17395915 |
20 |
ABCC8 |
NM_000352.6(ABCC8):c.1744C>G (p.Leu582Val) | ‎‎
SNV |
Pathogenic |
9106 |
rs137852674 |
11:17452434-17452434 |
11:17430887-17430887 |
21 |
GCK |
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) | ‎‎
SNV |
Pathogenic |
435306 |
rs1360415315 |
7:44189371-44189371 |
7:44149772-44149772 |
22 |
SLC2A2 |
NM_000340.2(SLC2A2):c.963+1G>A | ‎‎
SNV |
Pathogenic |
444008 |
rs371977235 |
3:170723073-170723073 |
3:171005284-171005284 |
23 |
HNF1A |
NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys) | ‎‎
SNV |
Pathogenic |
447503 |
rs1555212014 |
12:121432067-121432067 |
12:120994264-120994264 |
24 |
KCNJ11 |
NM_000525.3(KCNJ11):c.967dup (p.Asp323fs) | ‎‎
duplication |
Pathogenic |
478917 |
rs1554901596 |
11:17408671-17408672 |
11:17387124-17387125 |
25 |
ABCC8 |
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) | ‎‎
SNV |
Pathogenic |
495834 |
rs72559734 |
11:17496502-17496502 |
11:17474955-17474955 |
26 |
WFS1 |
NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter) | ‎‎
SNV |
Pathogenic |
523067 |
rs1553876668 |
4:6290728-6290728 |
4:6289001-6289001 |
27 |
HNF1B |
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter) | ‎‎
SNV |
Pathogenic |
635724 |
|
17:36104644-36104644 |
17:37744653-37744653 |
28 |
GCK |
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) | ‎‎
SNV |
Pathogenic |
265175 |
rs769268803 |
7:44187346-44187346 |
7:44147747-44147747 |
29 |
ABCC8 |
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
434045 |
rs72559715 |
11:17415926-17415926 |
11:17394379-17394379 |
30 |
KCNJ11 |
NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
8686 |
rs267607196 |
11:17408795-17408795 |
11:17387248-17387248 |
31 |
ABCC8 |
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
35617 |
rs193922402 |
11:17417158-17417158 |
11:17395611-17395611 |
32 |
ABCC8 |
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
188915 |
rs72559722 |
11:17434263-17434263 |
11:17412716-17412716 |
33 |
GCK |
NM_000162.5(GCK):c.676G>A (p.Val226Met) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
36243 |
rs148311934 |
7:44189362-44189362 |
7:44149763-44149763 |
34 |
IL6 |
IL6, -174G-C | ‎‎
SNV |
risk factor |
14718 |
|
|
|
35 |
GCK |
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) | ‎‎
SNV |
Likely pathogenic |
36200 |
rs193922283 |
7:44184775-44184775 |
7:44145176-44145176 |
36 |
HNF1A |
NM_000545.6(HNF1A):c.955G>A (p.Gly319Ser) | ‎‎
SNV |
risk factor |
14934 |
rs137853240 |
12:121432208-121432208 |
12:120994405-120994405 |
37 |
HMGA1 |
HMGA1, 1-BP INS, IVS5, -13 | ‎‎
insertion |
risk factor |
30122 |
|
|
|
38 |
LIPC |
NM_000236.2(LIPC):c.-293G>A | ‎‎
SNV |
risk factor |
14454 |
rs2070895 |
15:58723939-58723939 |
15:58431740-58431740 |
39 |
PDX1 |
NM_000209.4(PDX1):c.590G>A (p.Arg197His) | ‎‎
SNV |
risk factor |
8858 |
rs137852786 |
13:28498576-28498576 |
13:27924439-27924439 |
40 |
PDX1 |
NM_000209.4(PDX1):c.176A>T (p.Gln59Leu) | ‎‎
SNV |
risk factor |
8860 |
rs137852784 |
13:28494451-28494451 |
13:27920314-27920314 |
41 |
PDX1 |
PDX1, 3-BP INS, 243CCG | ‎‎
insertion |
risk factor |
8861 |
|
|
|
42 |
PDX1 |
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) | ‎‎
SNV |
Likely pathogenic |
8862 |
rs137852785 |
13:28494327-28494327 |
13:27920190-27920190 |
43 |
ABCC8 , KCNJ11 |
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) | ‎‎
SNV |
drug response |
8678 |
rs5219 |
11:17409572-17409572 |
11:17388025-17388025 |
44 |
HNF1A |
NM_000545.8(HNF1A):c.43G>T (p.Ala15Ser) | ‎‎
SNV |
Likely pathogenic |
915441 |
|
12:121416614-121416614 |
12:120978811-120978811 |
45 |
ENPP1 |
ENPP1, IVS20AS, 1-BP DEL, T, -11 | ‎‎
deletion |
risk factor |
13584 |
|
|
|
46 |
TCF7L2 |
NM_001146274.2(TCF7L2):c.450+33966C>T | ‎‎
SNV |
drug response |
7413 |
rs7903146 |
10:114758349-114758349 |
10:112998590-112998590 |
47 |
TCF7L2 |
NM_001146274.2(TCF7L2):c.552+9017G>T | ‎‎
SNV |
risk factor |
7414 |
rs12255372 |
10:114808902-114808902 |
10:113049143-113049143 |
48 |
TCF7L2 |
NM_001146274.2(TCF7L2):c.552+7162G>C | ‎‎
SNV |
risk factor |
7415 |
rs11196205 |
10:114807047-114807047 |
10:113047288-113047288 |
49 |
IGF2BP2 |
NM_006548.6(IGF2BP2):c.239+29254C>A | ‎‎
SNV |
risk factor |
2435 |
rs4402960 |
3:185511687-185511687 |
3:185793899-185793899 |
50 |
RETN |
RETN, +62G-A | ‎‎
SNV |
risk factor |
4884 |
|
|
|