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: rs387906626
rs387906626
1.000 0.071 15 48463207 missense variant T/C snp
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 2 1991 2016
dbSNP: rs111401431
rs111401431
0.756 0.179 15 48468097 missense variant G/A snp
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2015 2015
dbSNP: rs1131692052
rs1131692052
1.000 0.071 15 48460292 missense variant A/C snp
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 1991 1991
dbSNP: rs113871094
rs113871094
0.769 0.179 15 48465820 stop gained G/A snp
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2015 2015
dbSNP: rs137854480
rs137854480
0.744 0.179 15 48537629 missense variant G/A snp
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2015 2015
dbSNP: rs193922228
rs193922228
0.769 0.179 15 48430736 missense variant A/G snp
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2015 2015
dbSNP: rs387906622
rs387906622
0.923 0.071 15 48463210 missense variant T/C snp
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 1991 1991
dbSNP: rs387906624
rs387906624
0.923 0.071 15 48463124 missense variant C/T snp
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 1991 1991
dbSNP: rs397515757
rs397515757
0.769 0.179 15 48515382 splice region variant C/T snp
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2015 2015
dbSNP: rs587776863
rs587776863
1.000 0.071 15 48463104 inframe insertion T/TTGT in-del
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 1991 1991
dbSNP: rs727503054
rs727503054
0.756 0.179 15 48420752 missense variant A/G,T snp 1.6E-05
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2015 2015
dbSNP: rs387906623
rs387906623
0.878 0.143 15 48460258 missense variant C/T snp
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0