Source: CURATED

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: rs121918102
rs121918102
INS ; INS-IGF2
1.000 0.080 11 2159911 missense variant C/A snv
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia 		0.700 0
dbSNP: rs148685531
rs148685531
INS ; INS-IGF2
1.000 0.080 11 2160825 missense variant G/A;C snv 3.6E-05
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia 		0.700 0
dbSNP: rs1564912403
rs1564912403
INS ; INS-IGF2
1.000 0.080 11 2160946 missense variant G/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 0
dbSNP: rs397515519
rs397515519
INS ; INS-IGF2
1.000 0.080 11 2159793 synonymous variant T/C snv 4.5E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 0
dbSNP: rs397515521
rs397515521
INS ; INS-IGF2
1.000 0.080 11 2160969 start lost C/A;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 0
dbSNP: rs797045623
rs797045623
INS ; INS-IGF2
1.000 0.080 11 2160028 intron variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 0
dbSNP: rs80356663
rs80356663
INS ; INS-IGF2
0.925 0.120 11 2160901 missense variant G/A;T snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.700 0
dbSNP: rs80356664
rs80356664
INS ; INS-IGF2
0.882 0.120 11 2160878 missense variant C/G;T snv
CUI: C1852092
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 2
DIABETES MELLITUS, INSULIN-DEPENDENT, 2 		0.700 0
dbSNP: rs80356668
rs80356668
INS ; INS-IGF2
0.925 0.080 11 2160829 missense variant A/C;G snv
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia 		0.700 0
dbSNP: rs886037863
rs886037863
INS ; INS-IGF2
1.000 0.080 11 2160847 missense variant A/G snv
CUI: C3150617
Disease: Maturity-onset diabetes of the young, type 10
Maturity-onset diabetes of the young, type 10 		0.700 0
dbSNP: rs886041083
rs886041083
INS ; INS-IGF2
1.000 0.080 11 2160544 intron variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 0
dbSNP: rs121908261
rs121908261
INS ; INS-IGF2
0.851 0.120 11 2160809 missense variant G/A snv
CUI: C1852092
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 2
DIABETES MELLITUS, INSULIN-DEPENDENT, 2 		0.800 1.000 1 2008 2008
dbSNP: rs689
rs689
INS ; INS-IGF2
0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.720 1.000 1 2016 2019
dbSNP: rs689
rs689
INS ; INS-IGF2
0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60
CUI: C1739108
Disease: Latent Autoimmune Diabetes in Adults
Latent Autoimmune Diabetes in Adults 		0.710 1.000 1 2018 2019
dbSNP: rs689
rs689
INS ; INS-IGF2
0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
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: 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