Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893924
rs104893924
SLC26A2
0.851 0.120 5 149981550 missense variant T/A snv 1.1E-04 1.3E-04
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.810 1.000 2 2001 2012
dbSNP: rs104893915
rs104893915
SLC26A2
0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.810 1.000 1 1996 2010
dbSNP: rs104893915
rs104893915
SLC26A2
0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.800 1.000 2 1996 2012
dbSNP: rs104893918
rs104893918
SLC26A2
0.851 0.120 5 149981737 missense variant C/T snv 3.6E-05 2.8E-05
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.800 1.000 2 1996 2012
dbSNP: rs104893916
rs104893916
SLC26A2
0.882 0.120 5 149981626 missense variant G/T snv 4.0E-06 2.1E-05
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
Achondrogenesis, type IB (disorder) 		0.800 1.000 1 1996 1996
dbSNP: rs104893918
rs104893918
SLC26A2
0.851 0.120 5 149981737 missense variant C/T snv 3.6E-05 2.8E-05
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.800 1.000 1 1996 2012
dbSNP: rs104893920
rs104893920
SLC26A2
0.882 0.120 5 149980866 missense variant A/G snv
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
Achondrogenesis, type IB (disorder) 		0.800 1.000 1 1996 1996
dbSNP: rs1419613966
rs1419613966
SLC26A2
1.000 0.080 5 149980360 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.700 1.000 2 2003 2012
dbSNP: rs104893917
rs104893917
SLC26A2
1.000 0.080 5 149980357 missense variant G/A snv 2.8E-05
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.700 1.000 1 1996 1996