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: rs2237422
rs2237422
GLI3
7 42061332 intron variant C/T snv 0.49
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs28933372
rs28933372
GLI3
0.827 0.120 7 41966273 missense variant C/G snv
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.010 1.000 1 2013 2013
dbSNP: rs28933372
rs28933372
GLI3
0.827 0.120 7 41966273 missense variant C/G snv
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs28933372
rs28933372
GLI3
0.827 0.120 7 41966273 missense variant C/G snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 1.000 1 2013 2013
dbSNP: rs3801192
rs3801192
GLI3
1.000 0.120 7 42121928 intron variant C/T snv 9.5E-02
CUI: C1827293
Disease: Carcinoma of urinary bladder, invasive
Carcinoma of urinary bladder, invasive 		0.010 1.000 1 2010 2010
dbSNP: rs3801203
rs3801203
GLI3
7 42148801 intron variant C/A snv 0.13
CUI: C1285654
Disease: Memory performance
Memory performance 		0.700 1.000 1 2017 2017
dbSNP: rs3801234
rs3801234
GLI3
1.000 0.040 7 42217585 intron variant C/G snv 3.0E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs3801236
rs3801236
GLI3
1.000 0.040 7 42221225 intron variant C/G snv 0.87
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs4724101
rs4724101
GLI3
1.000 0.040 7 42230723 intron variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs565817241
rs565817241
GLI3
1.000 0.120 7 42045434 missense variant G/A;C snv 4.0E-06; 1.6E-05
CUI: C1858361
Disease: Pyogenic Arthritis, Pyoderma Gangrenosum and Acne
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 		0.010 1.000 1 2013 2013
dbSNP: rs57734857
rs57734857
GLI3
7 42179969 intron variant A/T snv 0.30
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6463089
rs6463089
GLI3
1.000 0.120 7 42113257 intron variant G/A snv 0.11
CUI: C1827293
Disease: Carcinoma of urinary bladder, invasive
Carcinoma of urinary bladder, invasive 		0.010 1.000 1 2010 2010
dbSNP: rs6949528
rs6949528
GLI3
1.000 0.040 7 42222253 intron variant A/G snv 0.87
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs6955604
rs6955604
GLI3
1.000 0.040 7 42217285 intron variant G/C;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs760184006
rs760184006
GLI3
1.000 0.080 7 41972396 missense variant T/C snv 4.0E-05 4.9E-05
CUI: C0026363
Disease: Mohr Syndrome
Mohr Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs7790090
rs7790090
GLI3
1.000 0.040 7 42232050 intron variant T/A snv 0.38
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs929387
rs929387
GLI3
0.851 0.080 7 41966080 missense variant G/A;C snv 0.43; 5.7E-06
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.010 1.000 1 2013 2013
dbSNP: rs929387
rs929387
GLI3
0.851 0.080 7 41966080 missense variant G/A;C snv 0.43; 5.7E-06
CUI: C3874346
Disease: Skeletal malocclusion
Skeletal malocclusion 		0.010 1.000 1 2019 2019
dbSNP: rs929387
rs929387
GLI3
0.851 0.080 7 41966080 missense variant G/A;C snv 0.43; 5.7E-06
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2013 2013
dbSNP: rs929387
rs929387
GLI3
0.851 0.080 7 41966080 missense variant G/A;C snv 0.43; 5.7E-06
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.010 1.000 1 2013 2013
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.700 0