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
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia
0.700 0
dbSNP: rs1057518908
rs1057518908
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C1846442
Disease: Hypoplastic acetabulae
Hypoplastic acetabulae
0.700 0
dbSNP: rs1057518908
rs1057518908
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia
0.700 0
dbSNP: rs1057518908
rs1057518908
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs1057518908
rs1057518908
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057518908
rs1057518908
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0