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: rs4689388
rs4689388
WFS1
0.882 0.360 4 6268329 upstream gene variant G/A snv 0.64
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.820 1.000 3 2009 2017
dbSNP: rs1801214
rs1801214
WFS1
1.000 0.080 4 6301295 missense variant C/A;G;T snv 0.67
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.810 1.000 4 2010 2018
dbSNP: rs104893882
rs104893882
WFS1
1.000 0.120 4 6301696 missense variant A/C;G snv 8.0E-06
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.800 1.000 9 2001 2014
dbSNP: rs104893883
rs104893883
WFS1
1.000 0.120 4 6302281 missense variant T/C snv
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.800 1.000 9 2001 2014
dbSNP: rs372855769
rs372855769
WFS1 ; LOC107986257
1.000 0.320 4 6302449 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.800 1.000 8 1998 2012
dbSNP: rs387906930
rs387906930
WFS1
0.790 0.360 4 6301846 missense variant C/G;T snv
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.800 1.000 3 2006 2011
dbSNP: rs387906931
rs387906931
WFS1
0.925 0.360 4 6302133 missense variant G/A snv
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.800 1.000 3 2006 2011
dbSNP: rs74315205
rs74315205
WFS1 ; LOC107986257
0.807 0.360 4 6302385 missense variant G/A snv
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.800 1.000 3 2006 2011
dbSNP: rs4458523
rs4458523
WFS1
1.000 0.080 4 6288259 intron variant T/G snv 0.61
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 1.000 2 2012 2014
dbSNP: rs199946797
rs199946797
WFS1
0.882 0.360 4 6301467 missense variant C/A;T snv 6.7E-04
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.800 0
dbSNP: rs28937893
rs28937893
WFS1
0.925 0.120 4 6301941 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.800 0
dbSNP: rs398123066
rs398123066
WFS1
1.000 4 6301180 missense variant A/G snv 4.0E-06
CUI: C3805412
Disease: CATARACT 41
CATARACT 41 		0.800 0
dbSNP: rs71539673
rs71539673
WFS1
0.925 0.320 4 6302220 missense variant G/A snv
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 1.000 0 2016 2016
dbSNP: rs121912618
rs121912618
WFS1
1.000 0.120 4 6302371 missense variant G/A;T snv 2.0E-05
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.700 1.000 9 2001 2014
dbSNP: rs141328044
rs141328044
WFS1
1.000 0.120 4 6302130 missense variant G/A;T snv 1.7E-03; 4.0E-06
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.700 1.000 9 2001 2014
dbSNP: rs142668478
rs142668478
WFS1
0.925 0.120 4 6301849 missense variant G/A;C;T snv 1.8E-04; 4.0E-06
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.700 1.000 9 2001 2014
dbSNP: rs201064551
rs201064551
WFS1
1.000 0.120 4 6301752 missense variant C/G;T snv 7.2E-04
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.700 1.000 9 2001 2014
dbSNP: rs758281375
rs758281375
WFS1
1.000 0.120 4 6291247 missense variant G/A;C snv 9.6E-05; 4.0E-06
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		0.700 1.000 9 2001 2014
dbSNP: rs1402999203
rs1402999203
WFS1
1.000 0.320 4 6301801 missense variant A/G snv 4.0E-06
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 1.000 8 1998 2012
dbSNP: rs148953711
rs148953711
WFS1
1.000 0.320 4 6291241 missense variant G/A snv 2.0E-05 4.9E-05
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 1.000 8 1998 2012
dbSNP: rs35932623
rs35932623
WFS1
1.000 0.320 4 6302247 missense variant C/T snv 5.0E-03 4.0E-03
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 1.000 8 1998 2012
dbSNP: rs369671890
rs369671890
WFS1
1.000 0.320 4 6277628 missense variant C/A;T snv 2.3E-04 8.4E-05
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 1.000 8 1998 2012
dbSNP: rs372249044
rs372249044
WFS1
1.000 0.320 4 6289068 missense variant G/A snv 1.4E-05 1.4E-05
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 1.000 8 1998 2012
dbSNP: rs71530910
rs71530910
WFS1
0.882 0.360 4 6301680 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 1.000 8 1998 2012
dbSNP: rs754373473
rs754373473
WFS1
1.000 0.320 4 6301863 missense variant T/C snv 8.0E-06
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.700 1.000 8 1998 2012