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: rs886039860
rs886039860
1.000 0.080 X 13744424 start lost T/C;G snv 1.1E-05
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 5 2001 2013
dbSNP: rs1555907034
rs1555907034
X 13760532 frameshift variant T/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 14 2000 2016
dbSNP: rs1555907034
rs1555907034
X 13760532 frameshift variant T/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 14 2000 2016
dbSNP: rs1569102786
rs1569102786
1.000 0.160 X 13736679 splice donor variant G/T snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 3 2006 2016
dbSNP: rs312262818
rs312262818
0.925 0.200 X 13736626 missense variant A/G;T snv 1.1E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 2 2008 2017
dbSNP: rs312262830
rs312262830
0.882 0.160 X 13739017 frameshift variant GAAA/- delins
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2008 2014
dbSNP: rs312262830
rs312262830
0.882 0.160 X 13739017 frameshift variant GAAA/- delins
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
0.700 1.000 2 2008 2014
dbSNP: rs797044945
rs797044945
1.000 0.160 X 13768080 frameshift variant TAAAA/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 2 2013 2015
dbSNP: rs1569128307
rs1569128307
1.000 0.160 X 13749512 frameshift variant AA/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2014 2014
dbSNP: rs312262830
rs312262830
0.882 0.160 X 13739017 frameshift variant GAAA/- delins
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2008 2008
dbSNP: rs312262830
rs312262830
0.882 0.160 X 13739017 frameshift variant GAAA/- delins
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2008 2008
dbSNP: rs312262845
rs312262845
0.925 0.200 X 13746827 frameshift variant AA/-;A;AAA delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2008 2008
dbSNP: rs312262894
rs312262894
1.000 0.120 X 13768063 frameshift variant G/- del
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225211
rs863225211
1.000 0.120 X 13736643 missense variant G/T snv
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225212
rs863225212
1.000 0.120 X 13767195 stop gained C/T snv
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225213
rs863225213
1.000 0.120 X 13736515 missense variant A/G snv 9.5E-06
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1060500123
rs1060500123
0.925 0.200 X 13767252 stop gained C/T snv
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1060500123
rs1060500123
0.925 0.200 X 13767252 stop gained C/T snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs122460150
rs122460150
1.000 0.080 X 13756659 missense variant A/C snv
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555900675
rs1555900675
1.000 0.080 X 13736476 splice acceptor variant A/- del
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555900734
rs1555900734
1.000 0.080 X 13736586 protein altering variant -/TAAAAGAGCTGC ins
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555901137
rs1555901137
1.000 0.080 X 13738877 missense variant T/A snv
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555901146
rs1555901146
1.000 0.080 X 13738895 frameshift variant C/- delins
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555901169
rs1555901169
1.000 0.080 X 13739033 splice donor variant G/T snv
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555902640
rs1555902640
0.925 0.200 X 13746360 stop gained -/A delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0