rs1318358361, ARID1B

N. diseases: 13
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.
Muenke Syndrome
CUI: C1864436
Disease: Muenke Syndrome
11 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.040 1.000 4 2006 2019
Congenital abnormal Synostosis
CUI: C0039093
Disease: Congenital abnormal Synostosis
7 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.030 1.000 3 2001 2012
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.020 1.000 2 1999 2002
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 2010 2010
Coronal craniosynostosis
CUI: C1856266
Disease: Coronal craniosynostosis
3 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 1999 1999
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 1997 1997
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
16 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 2001 2001
Epithelial hyperplasia of skin
CUI: C0263641
Disease: Epithelial hyperplasia of skin
4 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 2001 2001
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 1999 1999
Sagittal craniosynostosis
CUI: C0432123
Disease: Sagittal craniosynostosis
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 2010 2010
Scaphycephaly
CUI: C0265534
Disease: Scaphycephaly
8 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 2010 2010
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 2006 2006
Sudden infant death syndrome
CUI: C0038644
Disease: Sudden infant death syndrome
68 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 2006 2006