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: rs1557182214
rs1557182214
EMD
0.925 0.120 X 154379567 splice donor variant G/T snv
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 1.000 1 1995 1995
dbSNP: rs1557182692
rs1557182692
EMD
0.925 0.120 X 154381106 frameshift variant TCTGG/- del
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 1.000 1 1999 1999
dbSNP: rs63750687
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 1.000 1 2014 2014
dbSNP: rs1114167292
rs1114167292
RUBCN
0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0
dbSNP: rs1555421871
rs1555421871
CAPN3
0.882 0.120 15 42399617 frameshift variant G/- delins
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0
dbSNP: rs312262690
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0
dbSNP: rs587784347
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0
dbSNP: rs767982852
rs767982852
RUBCN
0.882 0.080 3 197694417 missense variant T/C snv 8.0E-06 4.9E-05
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0
dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
0.827 0.120 15 42387803 frameshift variant A/- delins
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0