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: rs1057518799
rs1057518799
0.923 0.071 1 151430715 frameshift variant T/TGATTGGCA in-del
CUI: C1837084
Disease: Short metacarpal
Short metacarpal
0.700 0
dbSNP: rs1057518799
rs1057518799
0.923 0.071 1 151430715 frameshift variant T/TGATTGGCA in-del
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057518799
rs1057518799
0.923 0.071 1 151430715 frameshift variant T/TGATTGGCA in-del
CUI: C0018772
Disease: Hearing Loss, Partial
Hearing Loss, Partial
0.700 0
dbSNP: rs1057518799
rs1057518799
0.923 0.071 1 151430715 frameshift variant T/TGATTGGCA in-del
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs1057518799
rs1057518799
0.923 0.071 1 151430715 frameshift variant T/TGATTGGCA in-del
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs1057518799
rs1057518799
0.923 0.071 1 151430715 frameshift variant T/TGATTGGCA in-del
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.700 0
dbSNP: rs1057518799
rs1057518799
0.923 0.071 1 151430715 frameshift variant T/TGATTGGCA in-del
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal
0.700 0