SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517523
rs1057517523 		0.851 0.120 5 149977837 stop gained C/G snv
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517524
rs1057517524 		0.851 0.120 5 149980326 frameshift variant GTCT/- delins
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517526
rs1057517526 		0.851 0.120 5 149980511 frameshift variant C/- del
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517530
rs1057517530 		0.851 0.120 5 149981399 frameshift variant AACT/- del
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057517532
rs1057517532 		0.851 0.120 5 149980653 stop gained G/T snv
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs386833498
rs386833498 		0.851 0.120 5 149981316 frameshift variant A/- delins
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs762137330
rs762137330 		0.851 0.120 5 149981575 frameshift variant C/- del 8.0E-06
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs104893916
rs104893916 		0.882 0.120 5 149981626 missense variant G/T snv 4.0E-06 2.1E-05
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 1996 2004
dbSNP: rs200963884
rs200963884 		0.925 0.120 5 149980292 splice acceptor variant G/C snv 4.9E-05
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 1994 2011
dbSNP: rs1419613966
rs1419613966 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2003 2012
dbSNP: rs786204675
rs786204675 		1.000 0.080 5 149978101 frameshift variant T/- delins
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 1996 1996
dbSNP: rs1225601391
rs1225601391 		1.000 0.080 5 149980462 frameshift variant G/- delins
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1481910744
rs1481910744 		1.000 0.080 5 149981519 frameshift variant T/- del 4.0E-06
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554095084
rs1554095084 		1.000 0.080 5 149977655 start lost G/T snv
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554095097
rs1554095097 		1.000 0.080 5 149977714 frameshift variant CA/- delins
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554095125
rs1554095125 		1.000 0.080 5 149977975 frameshift variant TT/- delins
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554095137
rs1554095137 		1.000 0.080 5 149978039 stop gained T/G snv
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554095145
rs1554095145 		1.000 0.080 5 149978151 frameshift variant G/- del
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554095154
rs1554095154 		1.000 0.080 5 149978225 frameshift variant CCTT/- delins
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554095156
rs1554095156 		1.000 0.080 5 149978263 stop gained T/G snv
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554095167
rs1554095167 		1.000 0.080 5 149978292 frameshift variant AA/- delins
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554095266
rs1554095266 		1.000 0.080 5 149980291 splice acceptor variant A/G snv
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554095296
rs1554095296 		1.000 0.080 5 149980517 frameshift variant C/- delins
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554095356
rs1554095356 		1.000 0.080 5 149981188 frameshift variant T/- delins
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554095364
rs1554095364 		1.000 0.080 5 149981357 stop gained C/A snv
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0