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: rs1555877107
rs1555877107
SLC19A1 ; COL18A1
1.000 0.160 21 45512337 frameshift variant -/TGCC ins
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.700 1.000 1 2014 2014
dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.700 0
dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv
CUI: C0086543
Disease: Cataract
Cataract 		0.700 0
dbSNP: rs113847452
rs113847452
SLC19A1 ; COL18A1
1.000 0.160 21 45511228 splice donor variant T/C snv 1.6E-05 7.0E-06
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.700 0
dbSNP: rs1555870809
rs1555870809
SLC19A1 ; COL18A1
21 45494560 stop gained C/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs1555874538
rs1555874538
SLC19A1 ; COL18A1
21 45504521 frameshift variant GGCCCCCC/- del
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs398122391
rs398122391
SLC19A1 ; COL18A1
0.882 0.160 21 45510091 frameshift variant CT/- del 3.0E-04 2.9E-04
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.700 0
dbSNP: rs398122391
rs398122391
SLC19A1 ; COL18A1
0.882 0.160 21 45510091 frameshift variant CT/- del 3.0E-04 2.9E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs398122391
rs398122391
SLC19A1 ; COL18A1
0.882 0.160 21 45510091 frameshift variant CT/- del 3.0E-04 2.9E-04
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.700 0
dbSNP: rs749009747
rs749009747
SLC19A1 ; COL18A1
1.000 0.160 21 45497645 frameshift variant C/-;CC delins
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.700 0
dbSNP: rs749009747
rs749009747
SLC19A1 ; COL18A1
1.000 0.160 21 45497645 frameshift variant C/-;CC delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs756797124
rs756797124
SLC19A1 ; COL18A1
1.000 0.160 21 45505236 frameshift variant CAGGGCCCCC/-;CAGGGCCCCCCAGGGCCCCC delins
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.700 0
dbSNP: rs769882681
rs769882681
SLC19A1 ; COL18A1
1.000 0.160 21 45504505 frameshift variant C/-;CC delins 3.6E-05 1.3E-03
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.700 0