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: rs397514721
rs397514721
SDF4 ; B3GALT6
1.000 1 1233203 missense variant T/A snv
CUI: C3809210
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 		0.800 1.000 1 2013 2013
dbSNP: rs397514722
rs397514722
SDF4 ; B3GALT6
1.000 1 1232294 missense variant C/A;T snv
CUI: C3809210
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 		0.800 1.000 1 2013 2013
dbSNP: rs397514717
rs397514717
SDF4 ; B3GALT6
1.000 0.080 1 1232972 missense variant C/G;T snv 5.9E-06; 1.2E-05
CUI: C0432243
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Spondyloepimetaphyseal Dysplasia With Joint Laxity 		0.700 1.000 2 2013 2013
dbSNP: rs397514718
rs397514718
SDF4 ; B3GALT6
1.000 0.080 1 1232744 missense variant G/A snv
CUI: C0432243
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Spondyloepimetaphyseal Dysplasia With Joint Laxity 		0.700 1.000 2 2013 2013
dbSNP: rs397514719
rs397514719
SDF4 ; B3GALT6
1.000 0.080 1 1232471 missense variant A/G snv
CUI: C0432243
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Spondyloepimetaphyseal Dysplasia With Joint Laxity 		0.700 1.000 2 2013 2013
dbSNP: rs397514720
rs397514720
SDF4 ; B3GALT6
1.000 0.080 1 1232478 missense variant C/T snv
CUI: C0432243
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Spondyloepimetaphyseal Dysplasia With Joint Laxity 		0.700 1.000 2 2013 2013
dbSNP: rs397514723
rs397514723
SDF4 ; B3GALT6
0.925 0.080 1 1232897 missense variant G/A;C snv
CUI: C0432243
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Spondyloepimetaphyseal Dysplasia With Joint Laxity 		0.700 1.000 2 2013 2013
dbSNP: rs397514724
rs397514724
SDF4 ; B3GALT6
0.925 0.080 1 1232927 missense variant G/A snv
CUI: C0432243
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Spondyloepimetaphyseal Dysplasia With Joint Laxity 		0.700 1.000 2 2013 2013
dbSNP: rs786200939
rs786200939
SDF4 ; B3GALT6
1.000 0.080 1 1233177 missense variant G/C snv
CUI: C0432243
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Spondyloepimetaphyseal Dysplasia With Joint Laxity 		0.700 1.000 2 2013 2013
dbSNP: rs1314046622
rs1314046622
SDF4 ; B3GALT6
1.000 1 1232823 missense variant A/G snv 7.0E-06
CUI: C3809210
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 		0.700 0
dbSNP: rs1553151294
rs1553151294
SDF4 ; B3GALT6
1 1232834 missense variant T/C snv
CUI: C4017377
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 		0.700 0
dbSNP: rs397514717
rs397514717
SDF4 ; B3GALT6
1.000 0.080 1 1232972 missense variant C/G;T snv 5.9E-06; 1.2E-05
CUI: C4017377
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 		0.700 0
dbSNP: rs397514718
rs397514718
SDF4 ; B3GALT6
1.000 0.080 1 1232744 missense variant G/A snv
CUI: C4017377
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 		0.700 0
dbSNP: rs397514719
rs397514719
SDF4 ; B3GALT6
1.000 0.080 1 1232471 missense variant A/G snv
CUI: C4017377
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 		0.700 0
dbSNP: rs397514720
rs397514720
SDF4 ; B3GALT6
1.000 0.080 1 1232478 missense variant C/T snv
CUI: C4017377
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 		0.700 0
dbSNP: rs397514723
rs397514723
SDF4 ; B3GALT6
0.925 0.080 1 1232897 missense variant G/A;C snv
CUI: C4017378
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES 		0.700 0
dbSNP: rs397514724
rs397514724
SDF4 ; B3GALT6
0.925 0.080 1 1232927 missense variant G/A snv
CUI: C4017378
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES 		0.700 0
dbSNP: rs533071750
rs533071750
SDF4 ; B3GALT6
1.000 1 1232860 frameshift variant GGGG/-;GGG;GGGGG delins
CUI: C3809210
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 		0.700 0
dbSNP: rs750088530
rs750088530
SDF4 ; B3GALT6
1.000 1 1232631 frameshift variant A/- del 1.4E-05
CUI: C3809210
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 		0.700 0
dbSNP: rs786200938
rs786200938
SDF4 ; B3GALT6
1 1232279 start lost A/C;G snv
CUI: C4017377
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 		0.700 0
dbSNP: rs786200939
rs786200939
SDF4 ; B3GALT6
1.000 0.080 1 1233177 missense variant G/C snv
CUI: C4017377
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 		0.700 0
dbSNP: rs786200942
rs786200942
SDF4 ; B3GALT6
1.000 1 1232685 inframe deletion ATGCTGGCC/- delins
CUI: C3809210
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 		0.700 0
dbSNP: rs786200943
rs786200943
SDF4 ; B3GALT6
1.000 1 1232595 frameshift variant CCCTGGAGCGGGAGCAGGCGCG/- delins
CUI: C4017378
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES 		0.700 0
dbSNP: rs548246291
rs548246291
SDF4 ; B3GALT6
1.000 0.040 1 1232945 missense variant G/A snv 4.0E-05 2.8E-05
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.010 1.000 1 2015 2015
dbSNP: rs763080896
rs763080896
SDF4 ; B3GALT6
1.000 0.040 1 1232896 missense variant C/G snv
CUI: C1836121
Disease: Al-Gazali Syndrome
Al-Gazali Syndrome 		0.010 1.000 1 2018 2018