Source: ALL

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: rs137852813
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 1.000 5 2007 2011
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 1.000 4 2002 2009
dbSNP: rs1555669248
rs1555669248
TUBB6
0.807 0.280 18 12325970 missense variant T/C snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.010 1.000 1 2017 2017
dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 1.000 1 2019 2019
dbSNP: rs77543610
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.010 1.000 1 2006 2006
dbSNP: rs1057518957
rs1057518957
CHRND
1.000 0.040 2 232535143 missense variant G/T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1057518958
rs1057518958
CHRND
1.000 0.040 2 232531353 frameshift variant T/- del
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1060499549
rs1060499549
ZNF462
0.882 0.120 9 106927699 stop gained C/T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs121913378
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs121913528
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1331463984
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1554442015
rs1554442015
TWIST1
0.851 0.120 7 19116970 missense variant G/C snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1554642022
rs1554642022
PUF60 ; SCRIB
0.851 0.200 8 143816981 stop gained G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1554700718
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1554768245
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1555247672
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1555429629
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1555741826
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1560755661
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1569146993
rs1569146993
TCF20
0.851 0.320 22 42211700 frameshift variant -/C delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1569509136
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs267607079
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs397507520
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0