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: rs1057518878
rs1057518878
MAF ; LOC101928230
1.000 0.200 16 79599715 missense variant G/C snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs1114167307
rs1114167307
GJA3
0.851 0.200 13 20143233 missense variant G/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs1114167308
rs1114167308
GJA3
1.000 0.200 13 20142823 missense variant T/G snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs1114167309
rs1114167309
GJA8
1.000 0.200 1 147908028 missense variant T/C snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs1114167310
rs1114167310
GJA8 ; LOC105371229
1.000 0.200 1 147908439 missense variant G/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs1114167311
rs1114167311
CRYAA ; LOC107987300
1.000 0.200 21 43172198 frameshift variant A/- del
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs1114167312
rs1114167312
CRYGS
1.000 0.200 3 186539588 missense variant AG/TT mnv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs1114167313
rs1114167313
GCNT2
1.000 0.200 6 10626489 missense variant T/C snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs1114167314
rs1114167314
GCNT2
1.000 0.200 6 10626564 frameshift variant ATCA/- delins
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs1114167315
rs1114167315
MIP ; TIMELESS
1.000 0.200 12 56451441 stop gained C/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs1177898071
rs1177898071
PSMC3
0.925 0.240 11 47419927 intron variant T/C;G snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs121908096
rs121908096
CYP27A1
0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs139353014
rs139353014
CRYGA
1.000 0.200 2 208163217 missense variant C/T snv 3.9E-03 2.3E-03
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs1568480054
rs1568480054
LIM2
0.925 0.200 19 51380577 missense variant G/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs397515623
rs397515623
CRYAA ; LOC107987300
0.925 0.200 21 43169259 missense variant C/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs587778779
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs730882219
rs730882219
GEMIN4
0.882 0.200 17 745591 missense variant A/C;G snv 4.1E-06; 1.2E-05
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs74315489
rs74315489
CRYBB2
0.925 0.200 22 25231617 stop gained C/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs781939614
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs781984979
rs781984979
PEX11B
0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs79006549
rs79006549
NECTIN3
1.000 0.200 3 111122207 missense variant A/C;G snv 1.9E-03
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs797045905
rs797045905
RAB3GAP1 ; ZRANB3
0.851 0.360 2 135164629 stop gained T/G snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs864309531
rs864309531
SMARCAL1
0.882 0.400 2 216423668 stop gained G/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs864309532
rs864309532
PHF6
0.807 0.360 X 134393952 missense variant G/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs878853162
rs878853162
TUBB
0.851 0.320 6 30723724 missense variant C/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0