Source: CLINVAR

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: rs62637012
rs62637012
AIPL1
0.925 0.040 17 6426684 missense variant A/G snv
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 4 		0.800 1.000 0 2000 2007
dbSNP: rs62637014
rs62637014
AIPL1
0.925 0.040 17 6425781 stop gained C/T snv 3.3E-04 3.8E-04
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 4 		0.700 1.000 7 2000 2015
dbSNP: rs1264794214
rs1264794214
AIPL1
1.000 0.040 17 6433930 missense variant A/G snv 7.2E-06
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 4 		0.700 1.000 5 2011 2017
dbSNP: rs62637014
rs62637014
AIPL1
0.925 0.040 17 6425781 stop gained C/T snv 3.3E-04 3.8E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 2 2000 2019
dbSNP: rs142326926
rs142326926
AIPL1
1.000 0.040 17 6426615 missense variant C/T snv 3.2E-05 4.9E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs281865195
rs281865195
AIPL1
0.925 0.040 17 6425551 inframe deletion CAGGTGGCTCTG/- delins 8.7E-04 6.5E-04
CUI: C2751763
Disease: Retinitis Pigmentosa, Juvenile, Aipl1-Related
Retinitis Pigmentosa, Juvenile, Aipl1-Related 		0.700 0
dbSNP: rs281865195
rs281865195
AIPL1
0.925 0.040 17 6425551 inframe deletion CAGGTGGCTCTG/- delins 8.7E-04 6.5E-04
CUI: C2751764
Disease: CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder)
CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder) 		0.700 0
dbSNP: rs62637010
rs62637010
AIPL1
1.000 0.040 17 6426934 missense variant C/G snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs62637011
rs62637011
AIPL1
1.000 0.040 17 6426906 missense variant A/T snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs62637012
rs62637012
AIPL1
0.925 0.040 17 6426684 missense variant A/G snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs62637016
rs62637016
AIPL1
1.000 0.040 17 6425604 frameshift variant CT/- delins
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 4 		0.700 0