Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886039823
rs886039823
1.000 18 10715678 missense variant C/G;T snv 7.2E-06
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
0.800 0
dbSNP: rs1057519425
rs1057519425
1.000 18 10705375 frameshift variant A/- del
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
0.700 0
dbSNP: rs1057519426
rs1057519426
1.000 18 10794978 frameshift variant AGC/TTCG delins
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
0.700 0
dbSNP: rs1057519626
rs1057519626
1.000 18 10762940 frameshift variant AAGTTCTCAGG/- delins
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
0.700 0
dbSNP: rs1555630216
rs1555630216
0.790 0.160 18 10714931 splice acceptor variant C/T snv
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
0.700 0
dbSNP: rs1555648288
rs1555648288
0.790 0.160 18 10795003 splice acceptor variant C/T snv
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
0.700 0
dbSNP: rs1568069621
rs1568069621
0.925 0.080 18 10797517 stop gained G/A snv
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
0.700 0
dbSNP: rs757200280
rs757200280
1.000 18 10689669 missense variant G/A snv 2.0E-05 2.1E-05
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
0.700 0
dbSNP: rs886039821
rs886039821
1.000 18 10715679 stop gained G/A snv 7.0E-06
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
0.700 0
dbSNP: rs886039822
rs886039822
1.000 18 10736621 stop gained G/A;C snv 7.0E-06
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
0.700 0
dbSNP: rs886039824
rs886039824
1.000 18 10773414 stop gained G/C snv
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
0.700 0