Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80356616
rs80356616
KCNJ11
0.732 0.360 11 17387917 missense variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 13 2004 2017
dbSNP: rs80356624
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 1.000 13 2004 2017
dbSNP: rs80356611
rs80356611
KCNJ11
0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 1.000 13 2004 2017
dbSNP: rs80356618
rs80356618
KCNJ11
0.807 0.200 11 17387595 missense variant C/A;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 1.000 13 2004 2017
dbSNP: rs193929337
rs193929337
KCNJ11
0.827 0.160 11 17387937 missense variant T/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 1.000 13 2004 2017
dbSNP: rs80356625
rs80356625
KCNJ11
0.827 0.280 11 17387491 missense variant G/A snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 13 2004 2017
dbSNP: rs80356615
rs80356615
KCNJ11
0.851 0.240 11 17387934 missense variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 13 2004 2017
dbSNP: rs80356637
rs80356637
ABCC8
0.851 0.240 11 17470119 missense variant A/C;G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 4 2006 2007
dbSNP: rs193929353
rs193929353
KCNJ11
0.882 0.120 11 17387206 missense variant T/C;G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 13 2004 2017
dbSNP: rs80356617
rs80356617
KCNJ11
0.882 0.160 11 17387916 missense variant A/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 1.000 13 2004 2017
dbSNP: rs80356620
rs80356620
KCNJ11
0.882 0.160 11 17387593 missense variant T/G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 13 2004 2017
dbSNP: rs137852676
rs137852676
ABCC8
0.882 0.160 11 17395852 stop gained C/A;T snv 1.5E-05
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 4 2006 2007
dbSNP: rs104894008
rs104894008
GCK ; LOC105375258
0.882 0.080 7 44147732 missense variant C/G;T snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 2 2001 2014
dbSNP: rs193922289
rs193922289
GCK
0.882 0.080 7 44152420 missense variant C/T snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 2 2001 2014
dbSNP: rs80356664
rs80356664
INS ; INS-IGF2
0.882 0.120 11 2160878 missense variant C/G;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 2 2007 2008
dbSNP: rs193929375
rs193929375
GCK
0.882 0.120 7 44145560 missense variant C/A snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 0
dbSNP: rs387906783
rs387906783
KCNJ11
0.925 0.160 11 17387913 missense variant A/G;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 13 2004 2017
dbSNP: rs121908274
rs121908274
INS ; INS-IGF2
0.925 0.080 11 2159935 missense variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 2 2007 2008
dbSNP: rs1286804191
rs1286804191
GCK
0.925 0.080 7 44145212 missense variant G/A snv 4.1E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 2 2001 2014
dbSNP: rs193922282
rs193922282
GCK
0.925 0.080 7 44145189 missense variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 2 2001 2014
dbSNP: rs80356654
rs80356654
GCK ; LOC105375258
0.925 0.080 7 44149810 missense variant A/G;T snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 2 2001 2014
dbSNP: rs80356655
rs80356655
GCK ; LOC105375258
0.925 0.080 7 44147830 missense variant G/A snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 2 2001 2014
dbSNP: rs80356663
rs80356663
INS ; INS-IGF2
0.925 0.120 11 2160901 missense variant G/A;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 2 2007 2008
dbSNP: rs80356668
rs80356668
INS ; INS-IGF2
0.925 0.080 11 2160829 missense variant A/C;G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 2 2007 2008
dbSNP: rs80356672
rs80356672
INS ; INS-IGF2
0.925 0.120 11 2159862 missense variant T/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 2 2007 2008