Source: CLINVAR

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: rs1057518908
rs1057518908
0.923 0.071 12 47984112 missense variant C/T snp
CUI: C1846442
Disease: Hypoplastic acetabulae
Hypoplastic acetabulae
0.700 1 2015 2015
dbSNP: rs1057518908
rs1057518908
0.923 0.071 12 47984112 missense variant C/T snp
CUI: C0019555
Disease: Hip Dislocation, Congenital
Hip Dislocation, Congenital
0.700 1 2015 2015
dbSNP: rs1057518908
rs1057518908
0.923 0.071 12 47984112 missense variant C/T snp
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia
0.700 1 2015 2015
dbSNP: rs1057518908
rs1057518908
0.923 0.071 12 47984112 missense variant C/T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1057518908
rs1057518908
0.923 0.071 12 47984112 missense variant C/T snp
CUI: C0018772
Disease: Hearing Loss, Partial
Hearing Loss, Partial
0.700 1 2015 2015
dbSNP: rs1057518908
rs1057518908
0.923 0.071 12 47984112 missense variant C/T snp
CUI: C0037932
Disease: Curvature of spine
Curvature of spine
0.700 1 2015 2015