Source: CURATED

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: rs201431517
rs201431517
MTFMT
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 1.000 2 2011 2014
dbSNP: rs10910937
rs10910937
CACNA1E ; LOC107985232
1 181428088 intron variant T/C snv 0.11
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 1.000 1 2018 2018
dbSNP: rs116450688
rs116450688 		6 32748350 downstream gene variant A/G snv
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 1.000 1 2018 2018
dbSNP: rs13434070
rs13434070
LOC105374016
3 102705418 intergenic variant T/C snv 9.6E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 1.000 1 2018 2018
dbSNP: rs150579085
rs150579085 		10 19032587 intergenic variant A/C snv 1.2E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 1.000 1 2018 2018
dbSNP: rs72922085
rs72922085 		1 66795937 downstream gene variant T/G snv 0.15
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 1.000 1 2018 2018
dbSNP: rs1057518829
rs1057518829
CACNA1F
1.000 0.040 X 49230343 stop gained T/A snv
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs1057518843
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs1085307139
rs1085307139
PUF60 ; SCRIB
0.925 0.040 8 143817380 frameshift variant -/C delins
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs113994152
rs113994152
TSEN54
0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs137854539
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs1554110735
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs1555745467
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
0.790 0.160 6 78946061 frameshift variant A/- delins
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
0.776 0.320 6 78969879 frameshift variant A/- delins
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs202160208
rs202160208
GMPPB
0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs377274761
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs397509426
rs397509426
GMPPB
0.882 0.080 3 49723632 missense variant G/A snv 8.0E-05 7.0E-06
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0