rs104893915, SLC26A2

N. diseases: 10
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.
Atelosteogenesis type 2
CUI: C1850554
Disease: Atelosteogenesis type 2
34 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.810 1.000 9 1996 2010
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
57 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.800 1.000 14 1996 2012
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
63 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.750 1.000 18 1996 2016
Achondrogenesis, type IB (disorder)
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
34 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.700 1.000 8 1996 2010
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.700 1.000 6 1996 2010
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
26 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.700 1.000 3 2004 2011
Multiple Epiphyseal Dysplasia
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
7 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.030 0.667 3 1999 2001
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.020 1.000 2 2001 2003
Acquired clubfoot
CUI: C0158489
Disease: Acquired clubfoot
2 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.010 1.000 1 2001 2001
De La Chapelle Dysplasia
CUI: C1850555
Disease: De La Chapelle Dysplasia
3 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.010 1.000 1 1997 1997