Disease: DIABETES MELLITUS, PERMANENT NEONATAL
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs193922402
ABCC8
0.807 0.160 11 17395611 stop gained G/A snv 1.3E-05 7.0E-06 6
rs72559722
ABCC8
0.807 0.160 11 17412716 stop gained G/A snv 6.1E-05 2.1E-05 6
rs72559734
ABCC8
0.807 0.160 11 17474955 missense variant C/A;T snv 4.0E-06; 8.0E-06 6
rs148311934
LOC105375258 ; GCK
0.827 0.080 7 44149763 missense variant C/T snv 8.0E-06 1.4E-05 5
rs1554948310
ABCC8
0.827 0.160 11 17474884 splice donor variant A/G snv 5
rs267607196
KCNJ11
0.827 0.160 11 17387248 missense variant C/T snv 2.4E-05 2.8E-05 5
rs587780345
LOC105375258 ; GCK
0.851 0.080 7 44150004 missense variant C/T snv 5
rs72559715
ABCC8
0.827 0.160 11 17394379 missense variant C/T snv 7.0E-06 5
rs1360415315
LOC105375258 ; GCK
0.851 0.080 7 44149772 missense variant C/G;T snv 4.0E-06 4
rs193922283
GCK
0.851 0.080 7 44145176 missense variant G/A snv 4
rs769268803
GCK ; LOC105375258
0.851 0.080 7 44147747 missense variant C/G;T snv 4.0E-06 4
rs137852673
ABCC8
0.851 0.120 11 17395915 missense variant G/A;T snv 5.0E-06; 2.0E-05 3
rs80356661
PDX1
0.882 0.120 13 27924341 missense variant G/T snv 3