Source: CLINVAR

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: rs1561873941
rs1561873941
CUL7
0.925 0.200 6 43040335 frameshift variant T/- del
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 1.000 1 2019 2019
dbSNP: rs1561881909
rs1561881909
CUL7 ; KLC4
0.925 0.200 6 43044835 frameshift variant G/- delins
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 1.000 1 2019 2019
dbSNP: rs1561898352
rs1561898352
CUL7 ; KLC4
0.882 0.200 6 43052582 frameshift variant -/A delins
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 1.000 1 2019 2019
dbSNP: rs1057518083
rs1057518083
DYNC1H1
0.851 0.120 14 101986552 missense variant C/T snv
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 0
dbSNP: rs1202430946
rs1202430946
IGHMBP2
0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 0
dbSNP: rs1555386022
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 0
dbSNP: rs199564797
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 0
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 0
dbSNP: rs745886248
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 0