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: 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: 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: 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: 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: 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: 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: 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: rs80356666
rs80356666
INS ; INS-IGF2
1.000 0.080 11 2160845 missense variant A/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 2 2007 2008
dbSNP: rs80356667
rs80356667
INS ; INS-IGF2
1.000 0.080 11 2160832 missense variant C/A 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: rs80356669
rs80356669
INS ; INS-IGF2
1.000 0.080 11 2159920 missense variant G/A snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 2 2007 2008
dbSNP: rs80356670
rs80356670
INS ; INS-IGF2
1.000 0.080 11 2159917 missense variant C/A snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 1.000 2 2007 2008
dbSNP: rs80356671
rs80356671
INS ; INS-IGF2
1.000 0.080 11 2159898 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: 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
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: 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: 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: 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