Source: ALL

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: rs759304648
rs759304648
GSN
0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
Lattice corneal dystrophy Type II
0.040 1.000 4 1995 2000
dbSNP: rs759304648
rs759304648
GSN
0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.030 1.000 3 2002 2007
dbSNP: rs759304648
rs759304648
GSN
0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial
0.020 1.000 2 1997 1999
dbSNP: rs759304648
rs759304648
GSN
0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic
0.010 1.000 1 2010 2010
dbSNP: rs759304648
rs759304648
GSN
0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.010 1.000 1 2009 2009
dbSNP: rs759304648
rs759304648
GSN
0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes
0.010 1.000 1 1999 1999
dbSNP: rs759304648
rs759304648
GSN
0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
0.010 1.000 1 2000 2000
dbSNP: rs759304648
rs759304648
GSN
0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05
CUI: C1719316
Disease: Inherited systemic amyloidosis
Inherited systemic amyloidosis
0.010 1.000 1 1999 1999
dbSNP: rs759304648
rs759304648
GSN
0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
0.010 1.000 1 2009 2009