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: rs104894017
rs104894017
HOXA1 ; HOTAIRM1
1.000 0.200 7 27095829 stop gained G/A;C snv
CUI: C1832216
Disease: Bosley-Salih-Alorainy Syndrome
Bosley-Salih-Alorainy Syndrome 		0.700 0
dbSNP: rs104894018
rs104894018
HOXA1 ; HOTAIRM1
1.000 0.200 7 27095837 stop gained G/A;C snv 2.4E-05
CUI: C1832215
Disease: Athabaskan brainstem dysgenesis
Athabaskan brainstem dysgenesis 		0.700 0
dbSNP: rs104894478
rs104894478
SIX1 ; MIR9718
0.882 0.160 14 60648804 missense variant T/C snv 4.0E-06
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.700 0
dbSNP: rs104894666
rs104894666
AMH ; MIR4321
1.000 0.160 19 2250667 stop gained C/G;T snv
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.700 0
dbSNP: rs1053874
rs1053874
DNASE1 ; TRAP1
0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06
CUI: C3862275
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1057516106
rs1057516106
KCNQ2 ; LOC105372721
0.925 0.080 20 63433876 missense variant G/A;C snv
CUI: C2751195
Disease: Epilepsy, Benign Neonatal, 1, And-Or Myokymia
Epilepsy, Benign Neonatal, 1, And-Or Myokymia 		0.700 0
dbSNP: rs1057516246
rs1057516246
MCOLN1 ; LOC105372261
1.000 0.160 19 7522782 splice donor variant G/A snv 2.8E-05
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.700 0
dbSNP: rs1057516602
rs1057516602
MCOLN1 ; LOC105372261
1.000 0.160 19 7524978 frameshift variant -/C delins
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.700 0
dbSNP: rs1057516770
rs1057516770
PCDH15 ; LOC105378311
1.000 0.200 10 54527811 splice donor variant C/G snv
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.700 0
dbSNP: rs1057518772
rs1057518772
KCNQ2 ; LOC105372721
20 63433860 missense variant A/C;G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057518782
rs1057518782
MCOLN1 ; LOC105372261
0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.700 0
dbSNP: rs1057518782
rs1057518782
MCOLN1 ; LOC105372261
0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1057518782
rs1057518782
MCOLN1 ; LOC105372261
0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057518782
rs1057518782
MCOLN1 ; LOC105372261
0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular 		0.700 0
dbSNP: rs1057518782
rs1057518782
MCOLN1 ; LOC105372261
0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0.700 0
dbSNP: rs1057518782
rs1057518782
MCOLN1 ; LOC105372261
0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		0.700 0
dbSNP: rs1057518782
rs1057518782
MCOLN1 ; LOC105372261
0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1057519589
rs1057519589
SLC30A10 ; LOC107985281
1.000 0.040 1 219927981 stop gained G/A snv
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		0.700 0
dbSNP: rs1057519590
rs1057519590
SLC30A10 ; LOC107985281
1.000 0.040 1 219927949 frameshift variant G/- delins
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		0.700 0
dbSNP: rs1060499595
rs1060499595
SIX1 ; MIR9718
0.925 0.160 14 60648730 stop gained T/A snv
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.700 0
dbSNP: rs1060499595
rs1060499595
SIX1 ; MIR9718
0.925 0.160 14 60648730 stop gained T/A snv
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		0.700 0
dbSNP: rs1060500200
rs1060500200
COL3A1 ; LOC105373791
1.000 0.160 2 188984761 frameshift variant T/- del
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		0.700 0
dbSNP: rs1060501410
rs1060501410
ENG ; LOC105379841
0.925 0.120 9 127824800 missense variant C/T snv
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.700 0
dbSNP: rs1060501415
rs1060501415
ENG ; LOC105379841
1.000 0.120 9 127825334 missense variant A/T snv
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.700 0
dbSNP: rs1060501419
rs1060501419
ENG ; LOC105379841
1.000 0.120 9 127824887 stop gained C/A snv
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		0.700 0