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: rs1048095
rs1048095
ABCC8
1.000 0.080 11 17461731 missense variant A/G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 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: rs115716690
rs115716690
KCNJ11
1.000 0.080 11 17387902 missense variant C/A snv 4.8E-05 9.8E-05
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 0
dbSNP: rs121908272
rs121908272
INS ; INS-IGF2
1.000 0.080 11 2160887 missense variant G/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 2 2007 2008
dbSNP: rs121908273
rs121908273
INS ; INS-IGF2
1.000 0.080 11 2160868 missense variant A/G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 2 2007 2008
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: rs121908276
rs121908276
INS ; INS-IGF2
1.000 0.080 11 2159883 missense variant G/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 2 2007 2008
dbSNP: rs121908277
rs121908277
INS ; INS-IGF2
1.000 0.080 11 2159877 missense variant T/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 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: rs137852675
rs137852675
ABCC8
1.000 0.080 11 17404518 missense variant G/A;T snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 4 2006 2007
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: rs1486280029
rs1486280029
GCK
1.000 0.080 7 44153382 missense variant G/A;T snv
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: 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: rs193929333
rs193929333
KCNJ11
1.000 0.080 11 17387989 missense variant A/C;G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 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: 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: 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: rs200563930
rs200563930
ABCC8
1.000 0.080 11 17397205 missense variant C/T snv 1.6E-04 5.6E-05
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 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: rs768017509
rs768017509
ABCC8
1.000 0.080 11 17461719 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 4 2006 2007
dbSNP: rs778892038
rs778892038
ABCC8
1.000 0.080 11 17461618 missense variant A/C snv 2.0E-05 2.8E-05
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 1.000 4 2006 2007
dbSNP: rs794727236
rs794727236
GCK
1.000 0.080 7 44153391 missense variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 0
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: 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