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: rs28937873
rs28937873
NR2E3
0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.820 1.000 0 2000 2014
dbSNP: rs104894492
rs104894492
NR2E3
1.000 0.160 15 71811590 missense variant C/A;T snv 1.3E-05; 3.0E-05; 4.4E-06 2.8E-05
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.800 1.000 8 2000 2013
dbSNP: rs146403122
rs146403122
NR2E3
0.925 0.160 15 71811966 missense variant G/A snv 4.3E-03 1.8E-03
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.720 1.000 8 2000 2019
dbSNP: rs377257254
rs377257254
NR2E3
1.000 0.160 15 71813408 missense variant C/A;T snv 3.7E-05; 2.1E-05
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.710 1.000 0 2007 2007
dbSNP: rs104894493
rs104894493
NR2E3
1.000 0.160 15 71811591 missense variant G/A snv 2.0E-04 3.1E-04
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.700 1.000 8 2000 2013
dbSNP: rs1278137915
rs1278137915
NR2E3
1.000 0.160 15 71811783 missense variant G/A;T snv
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.700 1.000 8 2000 2013
dbSNP: rs1489149705
rs1489149705
NR2E3
1.000 0.160 15 71811810 missense variant G/A snv 2.1E-05
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.700 1.000 8 2000 2013
dbSNP: rs752883545
rs752883545
NR2E3
1.000 0.160 15 71814024 missense variant T/C snv 8.2E-06 7.0E-06
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.700 1.000 8 2000 2013
dbSNP: rs1303613101
rs1303613101
NR2E3
1.000 0.160 15 71817671 missense variant T/A;C snv 8.1E-06; 4.0E-06
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.700 0
dbSNP: rs766769900
rs766769900
NR2E3
1.000 0.160 15 71817605 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.700 0
dbSNP: rs774102273
rs774102273
NR2E3
1.000 0.160 15 71813566 missense variant C/G;T snv 4.1E-06; 8.2E-06
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.700 0
dbSNP: rs990307718
rs990307718
NR2E3
1.000 0.160 15 71811830 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.700 0