rs28933068, FGFR3

N. diseases: 30
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
42 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.800 0.962 26 1996 2020
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
21 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.750 1.000 5 1998 2020
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
18 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.710 1.000 1 2009 2009
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 34 1985 2016
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 9 1995 2014
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
9 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
CATSHL syndrome
CUI: C1864852
Disease: CATSHL syndrome
10 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
283 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
8 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
33 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
Malignant neoplasm of testis
CUI: C0153594
Disease: Malignant neoplasm of testis
31 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
316 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
Muenke Syndrome
CUI: C1864436
Disease: Muenke Syndrome
11 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
17 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
17 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.020 1.000 2 2007 2017
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.020 0.500 2 1998 1998
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2011 2011
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2011 2011
Epilepsies, Partial
CUI: C0014547
Disease: Epilepsies, Partial
23 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2014 2014
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2017 2017
Focal dysplasia
CUI: C0522618
Disease: Focal dysplasia
1 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2014 2014
growth hormone treatment
CUI: C0744483
Disease: growth hormone treatment
1 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2012 2012