rs4647924, FGFR3

N. diseases: 49
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.
Seizures
CUI: C0036572
Disease: Seizures
553 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
Sparse and thin eyebrow
CUI: C4282407
Disease: Sparse and thin eyebrow
8 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
17 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
18 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
Unilateral agenesis of kidney
CUI: C0266294
Disease: Unilateral agenesis of kidney
7 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
Congenital abnormal Synostosis
CUI: C0039093
Disease: Congenital abnormal Synostosis
7 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.040 1.000 4 1997 2012
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.020 1.000 2 1999 2002
Unicoronal synostosis
CUI: C4023418
Disease: Unicoronal synostosis
1 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.020 0.500 2 1998 2001
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2010 2010
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 1999 1999
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
16 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2001 2001
Epithelial hyperplasia of skin
CUI: C0263641
Disease: Epithelial hyperplasia of skin
4 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2001 2001
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 1999 1999
Hepatoblastoma
CUI: C0206624
Disease: Hepatoblastoma
22 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2010 2010
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1 2016 2016
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2004 2004
Plagiocephaly
CUI: C0265529
Disease: Plagiocephaly
12 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 1998 1998
Sagittal craniosynostosis
CUI: C0432123
Disease: Sagittal craniosynostosis
13 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2010 2010
Scaphycephaly
CUI: C0265534
Disease: Scaphycephaly
8 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2010 2010
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2006 2006
Sprengel deformity
CUI: C0152438
Disease: Sprengel deformity
4 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2001 2001
Sudden infant death syndrome
CUI: C0038644
Disease: Sudden infant death syndrome
68 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2006 2006
Tarsal Coalition
CUI: C0265654
Disease: Tarsal Coalition
1 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 1998 1998
Trichohepatoenteric Syndrome
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
28 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2014 2014