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: rs28933068
rs28933068
0.784 0.107 4 1805644 stop gained C/A,G,T snp 1.6E-05
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.900 0.952 29 1973 2016
dbSNP: rs80053154
rs80053154
0.923 0.107 4 1805636 missense variant A/G snp 1.2E-05 3.2E-05
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.820 1.000 3 1993 2001
dbSNP: rs77722678
rs77722678
1.000 0.107 4 1805643 stop lost A/C,G snp 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.810 1.000 5 1993 2003
dbSNP: rs78311289
rs78311289
0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.800 5 1993 2008
dbSNP: rs121913105
rs121913105
0.724 0.179 4 1806163 missense variant A/C,T snp
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.710 1.000 2 1993 2008
dbSNP: rs121913114
rs121913114
0.923 0.107 4 1801930 missense variant A/G,T snp 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.700 2 2007 2008
dbSNP: rs121913115
rs121913115
1.000 0.107 4 1801928 missense variant A/G snp
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.700 2 1993 2007
dbSNP: rs121913116
rs121913116
1.000 0.107 4 1799395 missense variant C/T snp
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.700 2 1993 2007
dbSNP: rs28928868
rs28928868
0.923 0.107 4 1806164 missense variant G/C,T snp 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.700 2 1993 2001
dbSNP: rs587778775
rs587778775
1.000 0.107 4 1803785 stop gained G/A,T snp 3.2E-05
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.700 2 1993 2014
dbSNP: rs587778769
rs587778769
1.000 0.107 4 1799488 missense variant A/T snp
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.700 1 1993 1993
dbSNP: rs587778773
rs587778773
1.000 0.107 4 1801886 missense variant C/T snp 4.1E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.700 1 1993 1993
dbSNP: rs587778776
rs587778776
1.000 0.107 4 1804396 stop gained T/A,G snp 1.2E-05
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.700 1 1993 1993
dbSNP: rs587778801
rs587778801
1.000 0.107 4 1801518 synonymous variant C/T snp
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.700 1 1993 1993
dbSNP: rs587778811
rs587778811
1.000 0.107 4 1801896 missense variant G/T snp
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.700 1 1993 1993
dbSNP: rs587778816
rs587778816
1.000 0.107 4 1803731 missense variant C/A,G snp
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.700 1 1993 1993
dbSNP: rs587778817
rs587778817
1.000 0.107 4 1803744 stop lost A/G,T snp 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.700 1 1993 1993
dbSNP: rs28931614
rs28931614
0.744 0.179 4 1804392 missense variant G/A,C snp
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases 0.020 1.000 2 1995 2007