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: rs267606672
rs267606672
0.925 0.080 X 78045502 missense variant C/T snv
Spinal Muscular Atrophy, Distal, X-Linked 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs1557236729
rs1557236729
1.000 0.080 X 78029305 missense variant C/A snv
Spinal Muscular Atrophy, Distal, X-Linked 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1557237451
rs1557237451
0.882 0.240 X 78033783 stop gained C/A snv
Spinal Muscular Atrophy, Distal, X-Linked 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1557238665
rs1557238665
0.882 0.240 X 78043316 splice acceptor variant G/A snv
Spinal Muscular Atrophy, Distal, X-Linked 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1569549699
rs1569549699
0.882 0.240 X 77998678 stop gained G/T snv
Spinal Muscular Atrophy, Distal, X-Linked 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1569549974
rs1569549974
0.882 0.240 X 78014722 frameshift variant G/- del
Spinal Muscular Atrophy, Distal, X-Linked 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267606673
rs267606673
0.776 0.240 X 78029314 missense variant C/T snv
Spinal Muscular Atrophy, Distal, X-Linked 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045332
rs797045332
0.882 0.240 X 78003168 stop gained C/T snv
Spinal Muscular Atrophy, Distal, X-Linked 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045397
rs797045397
0.882 0.240 X 77988541 frameshift variant AG/- delins
Spinal Muscular Atrophy, Distal, X-Linked 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0