Source: ALL
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: rs121909084
rs121909084
1.000 0.120 9 91737463 missense variant G/A snv 4.0E-06
Robinow syndrome, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 2 2000 2000
dbSNP: rs10761129
rs10761129
9 91724039 missense variant C/T snv 0.72 0.71
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs10820904
rs10820904
9 91806142 intron variant C/A snv 2.8E-02
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2017 2017
dbSNP: rs117134265
rs117134265
1.000 0.080 9 91724819 missense variant C/G;T snv 4.0E-06; 3.4E-04
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2020 2020
dbSNP: rs117134265
rs117134265
1.000 0.080 9 91724819 missense variant C/G;T snv 4.0E-06; 3.4E-04
Early severe fetal akinesia sequence
0.700 1.000 1 2020 2020
dbSNP: rs121909083
rs121909083
1.000 0.120 9 91724990 stop gained G/A snv 4.0E-06
Robinow syndrome, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs145631389
rs145631389
1.000 0.080 9 91733251 missense variant T/A;C snv 1.7E-04
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2020 2020
dbSNP: rs145631389
rs145631389
1.000 0.080 9 91733251 missense variant T/A;C snv 1.7E-04
Early severe fetal akinesia sequence
0.700 1.000 1 2020 2020
dbSNP: rs267607016
rs267607016
0.882 0.120 9 91726603 stop gained G/A snv 4.0E-06 1.4E-05
Robinow syndrome, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2009 2009
dbSNP: rs104894121
rs104894121
1.000 0.080 9 91724247 stop gained C/T snv
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs104894122
rs104894122
1.000 0.080 9 91724248 stop gained C/T snv
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121909082
rs121909082
1.000 0.080 9 91724229 stop gained G/A;T snv 8.0E-06
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121909085
rs121909085
1.000 0.120 9 91724334 stop gained C/T snv
Robinow syndrome, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs121909086
rs121909086
1.000 0.120 9 91737400 stop gained G/A;T snv 4.0E-06
Robinow syndrome, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs121909087
rs121909087
1.000 0.120 9 91757380 stop gained G/A snv
Robinow syndrome, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs140213020
rs140213020
1.000 0.080 9 91724870 missense variant C/A;T snv 8.2E-06; 2.0E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs199975149
rs199975149
1.000 0.120 9 91737448 missense variant G/A snv 8.0E-06 2.1E-05
Robinow syndrome, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs267607016
rs267607016
0.882 0.120 9 91726603 stop gained G/A snv 4.0E-06 1.4E-05
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY
0.700 0
dbSNP: rs863223289
rs863223289
1.000 0.080 9 91724245 frameshift variant C/- delins
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs863223290
rs863223290
0.925 0.080 9 91726602 frameshift variant GCCGC/- delins
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs863223290
rs863223290
0.925 0.080 9 91726602 frameshift variant GCCGC/- delins
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS
0.700 0
dbSNP: rs863223291
rs863223291
1.000 0.120 9 91724551 frameshift variant CTTGTAG/- delins
Robinow syndrome, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs863223292
rs863223292
1.000 0.080 9 91724250 frameshift variant G/- delins
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs267607016
rs267607016
0.882 0.120 9 91726603 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3905385
rs3905385
0.882 0.200 9 91906451 intron variant T/C snv 0.23
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2012 2012